The protein encoded by this gene is one of three related synaptic vesicle proteins. The encoded protein may interact with synaptotagmin to enhance low frequency neurotransmission in quiescent neurons. [provided by RefSeq, Jun 2016] See more...

Aliases for SV2A Gene

Aliases for SV2A Gene

  • Synaptic Vesicle Glycoprotein 2A 2 3 4 5
  • KIAA0736 2 4
  • SV2 2 3
  • SV2A 5

External Ids for SV2A Gene

Previous GeneCards Identifiers for SV2A Gene

  • GC01M145617
  • GC01M146649
  • GC01M147091
  • GC01M146688
  • GC01M148141
  • GC01M149874
  • GC01M121255

Summaries for SV2A Gene

Entrez Gene Summary for SV2A Gene

  • The protein encoded by this gene is one of three related synaptic vesicle proteins. The encoded protein may interact with synaptotagmin to enhance low frequency neurotransmission in quiescent neurons. [provided by RefSeq, Jun 2016]

GeneCards Summary for SV2A Gene

SV2A (Synaptic Vesicle Glycoprotein 2A) is a Protein Coding gene. Diseases associated with SV2A include Carbamazepine Allergy and Foodborne Botulism. Among its related pathways are Neuroscience and Toxicity of botulinum toxin type F (BoNT/F). Gene Ontology (GO) annotations related to this gene include protein kinase binding and transporter activity. An important paralog of this gene is SV2C.

UniProtKB/Swiss-Prot Summary for SV2A Gene

  • Plays a role in the control of regulated secretion in neural and endocrine cells, enhancing selectively low-frequency neurotransmission. Positively regulates vesicle fusion by maintaining the readily releasable pool of secretory vesicles (By similarity).
  • (Microbial infection) Receptor for the C.botulinum neurotoxin type A2 (BoNT/A, botA); glycosylation is not essential but enhances the interaction (PubMed:29649119). Probably also serves as a receptor for the closely related C.botulinum neurotoxin type A1.

Tocris Summary for SV2A Gene

  • Once proteins are translated, they must be directed to the appropriate localization within, or outside of the cell. Protein translocation occurs either during translation or after translation and depends on the N'-terminal signal-recognition particle (SRP) interacting with its receptor.

Gene Wiki entry for SV2A Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SV2A Gene

Genomics for SV2A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SV2A Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SV2A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SV2A

Top Transcription factor binding sites by QIAGEN in the SV2A gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • LCR-F1
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c

Genomic Locations for SV2A Gene

Genomic Locations for SV2A Gene
chr1:149,903,318-149,917,844
(GRCh38/hg38)
Size:
14,527 bases
Orientation:
Minus strand
chr1:149,874,870-149,889,434
(GRCh37/hg19)
Size:
14,565 bases
Orientation:
Minus strand

Genomic View for SV2A Gene

Genes around SV2A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SV2A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SV2A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SV2A Gene

Proteins for SV2A Gene

  • Protein details for SV2A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7L0J3-SV2A_HUMAN
    Recommended name:
    Synaptic vesicle glycoprotein 2A
    Protein Accession:
    Q7L0J3
    Secondary Accessions:
    • D3DUZ7
    • O94841
    • Q5QNX8
    • Q7Z3L6
    • Q8NBJ6
    • Q9BVZ9

    Protein attributes for SV2A Gene

    Size:
    742 amino acids
    Molecular mass:
    82695 Da
    Quaternary structure:
    • Interacts with SYT1/synaptotagmin-1 in a calcium-dependent manner. Binds the adapter protein complex AP-2 (By similarity).
    • (Microbial infection) Interacts with C.botulinum neurotoxin type A2 (BoNT/A, botA) (PubMed:29649119). Interaction is improved by glycosylation of SV2 (PubMed:29649119).
    SequenceCaution:
    • Sequence=BAA34456.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=CAI12573.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
    Miscellaneous:
    • Identified as the brain binding-site for the antiepileptic drug levetiracetam/lev.

    Three dimensional structures from OCA and Proteopedia for SV2A Gene

    Alternative splice isoforms for SV2A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SV2A Gene

Post-translational modifications for SV2A Gene

  • Phosphorylation by CK1 of the N-terminal cytoplasmic domain regulates interaction with SYT1.
  • N-glycosylated.
  • Glycosylation at Asn498, Asn548, and Asn573
  • Ubiquitination at Lys366, Lys375, and Lys515
  • Modification sites at PhosphoSitePlus

Other Protein References for SV2A Gene

Antibody Products

  • Abcam antibodies for SV2A
  • Boster Bio Antibodies for SV2A
  • Santa Cruz Biotechnology (SCBT) Antibodies for SV2A

No data available for DME Specific Peptides for SV2A Gene

Domains & Families for SV2A Gene

Gene Families for SV2A Gene

Human Protein Atlas (HPA):
  • FDA approved drug targets
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for SV2A Gene

GenScript: Design optimal peptide antigens:
  • Synaptic vesicle glycoprotein 2A (SV2A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q7L0J3

UniProtKB/Swiss-Prot:

SV2A_HUMAN :
  • Belongs to the major facilitator superfamily.
Family:
  • Belongs to the major facilitator superfamily.
genes like me logo Genes that share domains with SV2A: view

Function for SV2A Gene

Molecular function for SV2A Gene

UniProtKB/Swiss-Prot Function:
Plays a role in the control of regulated secretion in neural and endocrine cells, enhancing selectively low-frequency neurotransmission. Positively regulates vesicle fusion by maintaining the readily releasable pool of secretory vesicles (By similarity).
UniProtKB/Swiss-Prot Function:
(Microbial infection) Receptor for the C.botulinum neurotoxin type A2 (BoNT/A, botA); glycosylation is not essential but enhances the interaction (PubMed:29649119). Probably also serves as a receptor for the closely related C.botulinum neurotoxin type A1.

Phenotypes From GWAS Catalog for SV2A Gene

Gene Ontology (GO) - Molecular Function for SV2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0019901 protein kinase binding ISS --
GO:0022857 transmembrane transporter activity IEA --
genes like me logo Genes that share ontologies with SV2A: view
genes like me logo Genes that share phenotypes with SV2A: view

Animal Models for SV2A Gene

MGI Knock Outs for SV2A:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SV2A

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SV2A Gene

Localization for SV2A Gene

Subcellular locations from UniProtKB/Swiss-Prot for SV2A Gene

Cell junction, synapse, presynapse. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane. Multi-pass membrane protein. Note=Enriched in chromaffin granules, not present in adrenal microsomes. Associated with both insulin granules and synaptic-like microvesicles in insulin-secreting cells of the pancreas (By similarity). Colocalizes with ATP2B1 at photoreceptor synaptic terminals. {ECO:0000250 UniProtKB:Q02563, ECO:0000250 UniProtKB:Q9JIS5}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SV2A gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 4
cytosol 3
extracellular 2
cytoskeleton 2
mitochondrion 2
peroxisome 2
nucleus 2
endosome 2
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SV2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005783 endoplasmic reticulum IDA --
GO:0005886 plasma membrane TAS --
GO:0005911 cell-cell junction IEA --
GO:0008021 synaptic vesicle TAS 15217342
genes like me logo Genes that share ontologies with SV2A: view

Pathways & Interactions for SV2A Gene

genes like me logo Genes that share pathways with SV2A: view

Pathways by source for SV2A Gene

Gene Ontology (GO) - Biological Process for SV2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006836 neurotransmitter transport IEA --
GO:0006874 cellular calcium ion homeostasis IEA --
GO:0007268 chemical synaptic transmission IEA --
GO:0014052 regulation of gamma-aminobutyric acid secretion IEA --
GO:0016082 synaptic vesicle priming IEA --
genes like me logo Genes that share ontologies with SV2A: view

No data available for SIGNOR curated interactions for SV2A Gene

Drugs & Compounds for SV2A Gene

(12) Drugs for SV2A Gene - From: DrugBank, ClinicalTrials, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Levetiracetam Approved Pharma Target, agonist, blocker 229
Brivaracetam Approved, Investigational Pharma Target, unknown, inhibitor 39
Brefeldin A Experimental Pharma Disrupts protein translocation to Golgi 0
Seletracetam Investigational Pharma Target, modulator, binder 0
Calcium Nutra 6556

(3) Additional Compounds for SV2A Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Exo1
461681-88-9
leptomycin b
87081-35-4

(4) Tocris Compounds for SV2A Gene

Compound Action Cas Number
Brefeldin A Disrupts protein translocation to Golgi 20350-15-6
DBeQ Selective and reversible p97 ATPase inhibitor 177355-84-9
Exo1 Inhibits Golgi-ER traffic; blocks exocytosis 461681-88-9
Leptomycin B Inhibits nuclear export of proteins; antitumor 87081-35-4
genes like me logo Genes that share compounds with SV2A: view

Transcripts for SV2A Gene

mRNA/cDNA for SV2A Gene

4 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SV2A

Alternative Splicing Database (ASD) splice patterns (SP) for SV2A Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15
SP1: -
SP2:
SP3:
SP4: -
SP5: - -

Relevant External Links for SV2A Gene

GeneLoc Exon Structure for
SV2A

Expression for SV2A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SV2A Gene

mRNA differential expression in normal tissues according to GTEx for SV2A Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x5.8), Brain - Anterior cingulate cortex (BA24) (x5.2), Brain - Cortex (x5.0), Brain - Cerebellum (x4.2), and Brain - Cerebellar Hemisphere (x4.1).

Protein differential expression in normal tissues from HIPED for SV2A Gene

This gene is overexpressed in Frontal cortex (31.1) and Brain (27.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SV2A Gene



Protein tissue co-expression partners for SV2A Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SV2A

SOURCE GeneReport for Unigene cluster for SV2A Gene:

Hs.516153

Evidence on tissue expression from TISSUES for SV2A Gene

  • Nervous system(5)
  • Eye(4.6)
  • Pancreas(3.2)
  • Muscle(3.1)
  • Kidney(2.7)
  • Stomach(2.7)
  • Heart(2.7)
  • Intestine(2.6)
  • Liver(2.6)
  • Blood(2.5)
  • Skin(2.4)
  • Adrenal gland(2.4)
genes like me logo Genes that share expression patterns with SV2A: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SV2A Gene

Orthologs for SV2A Gene

This gene was present in the common ancestor of animals.

Orthologs for SV2A Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SV2A 30 31
  • 99.78 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SV2A 31
  • 96 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia SV2A 30 31
  • 92.63 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SV2A 30 31
  • 91.87 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Sv2a 30
  • 90.97 (n)
Mouse
(Mus musculus)
Mammalia Sv2a 30 17 31
  • 90.48 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SV2A 31
  • 52 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SV2A 31
  • 71 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia sv2a 30
  • 74.76 (n)
Zebrafish
(Danio rerio)
Actinopterygii SV2A 31
  • 80 (a)
OneToOne
LOC568033 30
  • 72.5 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG3168 31
  • 27 (a)
ManyToMany
CG31106 31
  • 22 (a)
ManyToMany
CG31272 31
  • 21 (a)
ManyToMany
CG3690 31
  • 21 (a)
ManyToMany
CG31103 31
  • 21 (a)
ManyToMany
CG15221 31
  • 21 (a)
ManyToMany
CG14691 31
  • 20 (a)
ManyToMany
CG33234 31
  • 19 (a)
ManyToMany
CG12783 31
  • 18 (a)
ManyToMany
CG33233 31
  • 18 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 28 (a)
OneToMany
Species where no ortholog for SV2A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for SV2A Gene

ENSEMBL:
Gene Tree for SV2A (if available)
TreeFam:
Gene Tree for SV2A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SV2A: view image

Paralogs for SV2A Gene

Paralogs for SV2A Gene

(2) SIMAP similar genes for SV2A Gene using alignment to 2 proteins:

  • SV2A_HUMAN
  • L8E840_HUMAN
genes like me logo Genes that share paralogs with SV2A: view

Variants for SV2A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SV2A Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
711773 Likely Benign: not provided 149,913,277(-) G/A SYNONYMOUS_VARIANT
718000 Benign: not provided 149,910,576(-) G/A SYNONYMOUS_VARIANT
720861 Likely Benign: not provided 149,913,635(-) TCTC/T INFRAME_DELETION
722332 Likely Benign: not provided 149,905,984(-) A/G SYNONYMOUS_VARIANT
733214 Likely Benign: not provided 149,905,095(-) G/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for SV2A Gene

Structural Variations from Database of Genomic Variants (DGV) for SV2A Gene

Variant ID Type Subtype PubMed ID
nsv508037 OTHER sequence alteration 20534489
nsv831525 CNV gain 17160897
nsv831537 CNV loss 17160897

Variation tolerance for SV2A Gene

Residual Variation Intolerance Score: 4.28% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.85; 34.67% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SV2A Gene

Human Gene Mutation Database (HGMD)
SV2A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SV2A

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SV2A Gene

Disorders for SV2A Gene

MalaCards: The human disease database

(23) MalaCards diseases for SV2A Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
carbamazepine allergy
  • carbamazepen allergy
foodborne botulism
  • wound botulism
reflex epilepsy
  • epilepsy, sensory-induced
photosensitive epilepsy
  • photoparoxysmal response 1
intestinal botulism
  • intestinal colonization botulism
- elite association - COSMIC cancer census association via MalaCards
Search SV2A in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SV2A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with SV2A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SV2A Gene

Publications for SV2A Gene

  1. No major role of common SV2A variation for predisposition or levetiracetam response in epilepsy. (PMID: 18977120) Lynch JM … Sisodiya SM (Epilepsy research 2009) 3 23 41
  2. The synaptic vesicle protein SV2A is the binding site for the antiepileptic drug levetiracetam. (PMID: 15210974) Lynch BA … Fuks B (Proceedings of the National Academy of Sciences of the United States of America 2004) 3 4 26
  3. Expression of synaptic vesicle protein 2A in epilepsy-associated brain tumors and in the peritumoral cortex. (PMID: 20167814) de Groot M … Reijneveld JC (Neuro-oncology 2010) 3 23
  4. Expression patterns of synaptic vesicle protein 2A in focal cortical dysplasia and TSC-cortical tubers. (PMID: 19220410) Toering ST … Aronica E (Epilepsia 2009) 3 23
  5. Botulinum toxin type A inhibits the growth of LNCaP human prostate cancer cells in vitro and in vivo. (PMID: 19399787) Karsenty G … Corcos J (The Prostate 2009) 3 23

Products for SV2A Gene

Sources for SV2A Gene