SV2A (synaptic vesicle glycoprotein 2A)

2010-06-01  

Identity

HGNC
SV2A
LOCATION
1q21.2
LOCUSID
9900
ALIAS
SV2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9900
MIM: 185860
HGNC: 20566
Ensembl: ENSG00000159164

Variants:

dbSNP: 9900
ClinVar: 9900
TCGA: ENSG00000159164
COSMIC: SV2A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000159164ENST00000369145Q7L0J3
ENSG00000159164ENST00000369146Q7L0J3

Expression (GTEx)

0
50
100
150
200
250
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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 E (BoNT/E)REACTOMER-HSA-5250992
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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
379858162024Biallelic variants in the synaptic vesicle glycoprotein 2 A are associated with epileptic encephalopathy.1
379858162024Biallelic variants in the synaptic vesicle glycoprotein 2 A are associated with epileptic encephalopathy.1
367584442023Broadening the phenotypic spectrum of the presumably epilepsy-related SV2A gene variants.2
367809422023Loss of SV2A promotes human neural stem cell apoptosis via p53 signaling.1
369346032023Reductions in synaptic marker SV2A in early-course Schizophrenia.2
367584442023Broadening the phenotypic spectrum of the presumably epilepsy-related SV2A gene variants.2
367809422023Loss of SV2A promotes human neural stem cell apoptosis via p53 signaling.1
369346032023Reductions in synaptic marker SV2A in early-course Schizophrenia.2
335887522021Differentiation of two human neuroblastoma cell lines alters SV2 expression patterns.3
348848932021Validation of SV2A-Targeted PET Imaging for Noninvasive Assessment of Neuroendocrine Differentiation in Prostate Cancer.9
335887522021Differentiation of two human neuroblastoma cell lines alters SV2 expression patterns.3
348848932021Validation of SV2A-Targeted PET Imaging for Noninvasive Assessment of Neuroendocrine Differentiation in Prostate Cancer.9
324009502020In vivo measurement of widespread synaptic loss in Alzheimer's disease with SV2A PET.113
329449492020Reduced synaptic vesicle protein 2A binding in temporal lobe epilepsy: A [(11) C]UCB-J positron emission tomography study.33
324009502020In vivo measurement of widespread synaptic loss in Alzheimer's disease with SV2A PET.113

Citation

Dessen P

SV2A (synaptic vesicle glycoprotein 2A)

Atlas Genet Cytogenet Oncol Haematol. 2010-06-01

Online version: http://atlasgeneticsoncology.org/gene/51509/sv2a-(synaptic-vesicle-glycoprotein-2a)