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SV2A Gene

protein-coding   GIFtS: 64
GCID: GC01M149874

Synaptic Vesicle Glycoprotein 2A

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Synaptic Vesicle Glycoprotein 2A1 2
SV22 5
KIAA07363

External Ids:    HGNC: 205661   Entrez Gene: 99002   Ensembl: ENSG000001591647   OMIM: 1858605   UniProtKB: Q7L0J33   

Export aliases for SV2A gene to outside databases

Previous GC identifers: GC01M145617 GC01M146649 GC01M147091 GC01M146688 GC01M148141 GC01M121255


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for SV2A Gene:
SV2A (synaptic vesicle glycoprotein 2A) is a protein-coding gene. Diseases associated with SV2A include gastrointestinal stromal tumor, and focal epilepsy. GO annotations related to this gene include transmembrane transporter activity and receptor activity. An important paralog of this gene is SV2B.

UniProtKB/Swiss-Prot: SV2A_HUMAN, Q7L0J3
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)

Gene Wiki entry for SV2A Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NC_018912.2  NT_004487.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the SV2A gene promoter:
         E2F-4   E2F-3a   E2F-5   SREBP-1a   E2F-1   E2F   SREBP-1c   E2F-2   LCR-F1   SREBP-1b   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSV2A promoter sequence
   Search Chromatin IP Primers for SV2A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SV2A


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q21.2   Ensembl cytogenetic band:  1q21.2   HGNC cytogenetic band: 1q21.2

SV2A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SV2A gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M149874:  view genomic region     (about GC identifiers)

Start:
149,874,870 bp from pter      End:
149,889,434 bp from pter
Size:
14,565 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SV2A_HUMAN, Q7L0J3 (See protein sequence)
Recommended Name: Synaptic vesicle glycoprotein 2A  
Size: 742 amino acids; 82695 Da
Subunit: Interacts with SYT1/synaptotagmin-1 in a calcium-dependent manner. Binds the adapter protein complex AP-2
(By similarity)
Miscellaneous: Identified as the brain binding-site for the antiepileptic drug levetiracetam/lev
Sequence caution: Sequence=BAA34456.2; Type=Erroneous initiation; Sequence=CAI12573.1; Type=Erroneous gene model
prediction;
Secondary accessions: D3DUZ7 O94841 Q5QNX8 Q7Z3L6 Q8NBJ6 Q9BVZ9
Alternative splicing: 2 isoforms:  Q7L0J3-1   Q7L0J3-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SV2A: NX_Q7L0J3

Explore proteomics data for SV2A at MOPED

Post-translational modifications: 

  • Phosphorylation by CK1 of the N-terminal cytoplasmic domain regulates interaction with SYT1 (By similarity)1
  • N-glycosylated (By similarity)1
  • Ubiquitination2 at Lys366, Lys375, Lys515
  • Glycosylation2 at Asn498, Asn548, Asn573
  • Modification sites at PhosphoSitePlus

  • See SV2A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001265648.1  NP_055664.3  

    ENSEMBL proteins: 
     ENSP00000358142   ENSP00000358141  
    Reactome Protein details: Q7L0J3

    SV2A Human Recombinant Protein Products:

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    Novus Biologicals SV2A Protein
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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for SV2A

    SV2A Antibody Products:

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    Cloud-Clone Corp. ELISAs for SV2A
    Cloud-Clone Corp. CLIAs for SV2A


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 7):
     IPR005829 Sugar_transporter_CS
     IPR022308 SV2
     IPR001646 5peptide_repeat
     IPR005828 Sub_transporter
     IPR020846 MFS_dom

    Graphical View of Domain Structure for InterPro Entry Q7L0J3

    ProtoNet protein and cluster: Q7L0J3

    UniProtKB/Swiss-Prot: SV2A_HUMAN, Q7L0J3
    Similarity: Belongs to the major facilitator superfamily


    SV2A for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SV2A_HUMAN, Q7L0J3
    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)

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004872receptor activity IEA--
    GO:0005215transporter activity ----
    GO:0005515protein binding ----
    GO:0022857transmembrane transporter activity IEA--
         
    SV2A for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SV2A:
     Decreased viability 

         6 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Sv2a):
     behavior/neurological  cellular  growth/size/body  mortality/aging  nervous system 
     normal 

    SV2A for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for SV2A: Sv2atm1Sud Sv2atm1Baj

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SV2A
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SV2A

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    Block miRNA regulation of human, mouse, rat SV2A using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SV2A (see all 57):
    hsa-miR-139-5p hsa-miR-128 hsa-miR-218 hsa-miR-342-3p hsa-miR-29b-1* hsa-miR-133a hsa-miR-23a hsa-miR-548am
    SwitchGear 3'UTR luciferase reporter plasmidSV2A 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SV2A

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SV2A


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SV2A_HUMAN, Q7L0J3: Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane; Multi-pass membrane
    protein (By similarity). 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)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum4
    cytosol3
    plasma membrane3
    peroxisome2

    Gene Ontology (GO): Selected cellular component terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005783endoplasmic reticulum IDA--
    GO:0005911cell-cell junction IEA--
    GO:0008021synaptic vesicle ----
    GO:0016020membrane ----

    SV2A for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for SV2A About    
    See pathways by source

    SuperPathContained pathways About
    1Focal adhesion
    ECM-receptor interaction0.31

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4 Reactome Pathways for SV2A
        Toxicity of botulinum toxin type D (BoNT/D)
    Toxicity of botulinum toxin type E (BoNT/E)
    Toxicity of botulinum toxin type F (BoNT/F)
    Toxicity of botulinum toxin type A (BoNT/A)


    1 Kegg Pathway  (Kegg details for SV2A):
        ECM-receptor interaction


    SV2A for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SV2A
    Interactions:

        GeneGlobe Interaction Network for SV2A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for SV2A (Q7L0J33 ENSP000003581424) via UniProtKB, MINT, STRING, and/or I2D (see all 31)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LAMA5O152303, ENSP000002529994I2D: score=2 STRING: ENSP00000252999
    SYT1P215793, ENSP000002612054I2D: score=2 STRING: ENSP00000261205
    MAGI2Q86UL83, ENSP000003461514I2D: score=1 STRING: ENSP00000346151
    RIN1Q136713, ENSP000003104064I2D: score=1 STRING: ENSP00000310406
    ETS1P149213I2D: score=1 
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport ----
    GO:0006836neurotransmitter transport IEA--
    GO:0006874cellular calcium ion homeostasis IEA--
    GO:0055085transmembrane transport ----

    SV2A for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for SV2A available from Tocris Bioscience    About this table
    CompoundAction CAS #
    Leptomycin BInhibits nuclear export of proteins; antitumor[87081-35-4]
    Brefeldin ADisrupts protein translocation to Golgi[20350-15-6]
    Eeyarestatin IPotent inhibitor of ER-associated protein degradation and translocation[412960-54-4]
    Exo1Inhibits Golgi-ER traffic; blocks exocytosis[461681-88-9]
    LevetiracetamAntiepileptic; binds SV2A[102767-28-2]

    1 HMDB Compound for SV2A    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    1 DrugBank Compound for SV2A    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    LevetiracetamLevetiracetam [INN] (see all 3)102767-28-2targetagonist15210974 16556440 15367040 17431542 18072813 17461889 16434140

    7 Novoseek inferred chemical compound relationships for SV2A gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    levetiracetam 81.5 33 16556440 (6), 18977120 (6), 18513349 (3), 19014930 (2) (see all 11)
    gaba 9 1 18286712 (1)
    acetylcholine 3.4 1 10504304 (1)
    calcium 0 13 15866046 (4), 16306227 (2), 19777068 (1), 19140166 (1) (see all 5)
    tyrosine 0 2 10628800 (1), 10747945 (1)
    gold 0 1 8985140 (1)
    hydrogen 0 1 17311420 (1)



    SV2A for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SV2A gene (2 alternative transcripts): 
    NM_001278719.1  NM_014849.4  

    Unigene Cluster for SV2A:

    Synaptic vesicle glycoprotein 2A
    Hs.516153  [show with all ESTs]
    Unigene Representative Sequence: NM_014849
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000369146(uc009wlk.3 uc001etg.3) ENST00000369145(uc001eth.2)

    miRNA
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    Block miRNA regulation of human, mouse, rat SV2A using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SV2A (see all 57):
    hsa-miR-139-5p hsa-miR-128 hsa-miR-218 hsa-miR-342-3p hsa-miR-29b-1* hsa-miR-133a hsa-miR-23a hsa-miR-548am
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      QuantiFast Probe-based Assays in human, mouse, rat SV2A

    Additional mRNA sequence: 

    AB018279.1 AK075480.1 AK291718.1 AK303161.1 BC000776.2 BC034038.1 BC045111.1 BC112435.1 
    BC114453.1 BX537754.1 

    18 DOTS entries:

    DT.449176  DT.92431964  DT.121448748  DT.100780556  DT.121448744  DT.121448741  DT.100780557  DT.121448782 
    DT.121448778  DT.95271387  DT.121448738  DT.121448742  DT.121448771  DT.121448774  DT.95149118  DT.95271386 
    DT.95271391  DT.95271392 

    Selected AceView cDNA sequences (see all 205):

    F02224 AA987266 BE313236 AA551277 AL539386 AI694781 CR592758 AI598157 
    AI254357 AI567931 AA975823 BM672202 BU553695 T09198 BE465640 BM680065 
    F09630 BQ721750 AL597531 F10628 AI092574 BC045111 T33716 BM724208 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for SV2A    About this scheme

    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:                    -     -                                                                                             


    ECgene alternative splicing isoforms for SV2A

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SV2A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGGACGTAG
    SV2A Expression
    About this image


    SV2A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Midbrain tegmentum
     
     Pancreas (Endocrine System)
             Islets of Langerhans
    SV2A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SV2A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.516153
        Custom PCR Arrays for SV2A
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SV2A

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for SV2A gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sv2a1 , 5 synaptic vesicle glycoprotein 2 a1, 5 90.48(n)1
    98.92(a)1
      3 (41.65 cM)5
    640511  NM_022030.31  NP_071313.11 
     961811515 
    chicken
    (Gallus gallus)
    Aves SV2A6
    synaptic vesicle glycoprotein 2A
    71(a)
    1 ↔ 1
    AADN03013955.1(21-1028)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia sv2a1 synaptic vesicle glycoprotein 2A 74.76(n)
    83.81(a)
      100379721  XM_002938462.2  XP_002938508.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5680331 synaptic vesicle glycoprotein 2A-like 72.5(n)
    80.3(a)
      568033  XM_691342.4  XP_696434.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG31686
    CG311066
    (see all 10)
    --
    27(a)
    22(a)
    (see all 10)
    many ↔ many
    many ↔ many
    (see all 10)
    X(6614508-6634019)
    3R(21042021-21044430)


    ENSEMBL Gene Tree for SV2A (if available)
    TreeFam Gene Tree for SV2A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SV2A gene
    SV2B2  SV2C2  SVOPL2  SVOP2  
    2 SIMAP similar genes for SV2A using alignment to 2 protein entries:     SV2A_HUMAN (see all proteins):
    SV2B    SV2C

    SV2A for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SV2A (see all 393)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs727081571,2
    C,F--149874606(+) TCTGGG/AGTCTA 1 -- int12Minor allele frequency- A:0.12NA 122
    rs1403077061,2
    --149874695(+) ATCTGA/GGAGAC 1 -- int10--------
    rs1159496601,2
    F--149874706(+) TTAGAG/TGGCCC 1 -- int11Minor allele frequency- T:0.05WA 118
    rs747622871,2
    F--149874739(+) AGGTAG/AAGAGG 1 -- int11Minor allele frequency- A:0.02WA 118
    rs38204471,2
    C,F,H--149875001(-) TCCTCG/ACACCC 1 -- ut31 ese34Minor allele frequency- A:0.00NS EA 412
    rs1380329981,2
    --149875059(+) CACACA/GCTCAT 1 -- ut310--------
    rs1419238681,2
    --149875124(+) AGTCAC/TCACCT 1 -- ut310--------
    rs1458004251,2
    --149875250(+) TTTTTA/TAAACA 1 -- ut310--------
    rs1393266521,2
    --149875574(+) TCCCTC/GTGAGG 1 -- ut310--------
    rs1494434201,2
    C--149875620(+) TTCCCA/GCCTGT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for SV2A (149874870 - 149889434 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for SV2A:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv508037CNV Loss20534489
    nsv831537CNV Loss17160897
    nsv428235CNV Gain18775914
    nsv831525CNV Gain17160897
    esv2750807CNV Gain17911159
    essv23032CNV CNV17122850
    dgv117e1CNV Complex17122850
    dgv125e1CNV Complex17122850
    dgv123e1CNV Complex17122850

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SV2A
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 185860    OMIM disorders: --

    15 diseases for SV2A:    
    About MalaCards
    gastrointestinal stromal tumor    focal epilepsy    lysosomal storage disease    neuroendocrine tumor
    alzheimer's disease    neuroblastoma    adenoma    cerebritis
    thyroiditis    neuronitis    schizophrenia    prostate cancer
    prostatitis    adenocarcinoma    breast cancer

    1 disease from the University of Copenhagen DISEASES database for SV2A:
    Focal epilepsy

    SV2A for disorders           About GeneDecksing

    8 Novoseek inferred disease relationships for SV2A gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    epilepsy 42.4 17 18977120 (4), 18717715 (2), 19757204 (2), 20167814 (2) (see all 6)
    gastrointestinal stromal tumor 40.3 2 15153446 (1), 16954444 (1)
    carcinoid 28.5 2 15906087 (1), 11021834 (1)
    alzheimers disease 2.05 1 1594095 (1)
    adenocarcinoma 0 5 11748641 (1), 15153446 (1)
    adenoma 0 1 9744767 (1)
    tumors 0 20 20167814 (4), 15906087 (3), 15153446 (2), 16954444 (2) (see all 6)
    carcinoma 0 3 9744767 (1), 15906087 (1)

    Genetic Association Database (GAD): SV2A
    Human Genome Epidemiology (HuGE) Navigator: SV2A (1 document)

    Export disorders for SV2A gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SV2A gene, integrated from 10 sources (see all 124):
    (articles sorted by number of sources associating them with SV2A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The synaptic vesicle protein SV2A is the binding site for the antiepileptic drug levetiracetam. (PubMed id 15210974)1, 2, 7 Lynch B.A.... Fuks B. (Proc. Natl. Acad. Sci. U.S.A. 2004)
    2. No major role of common SV2A variation for predisposition or levetiracetam response in epilepsy. (PubMed id 18977120)1, 4, 9 Lynch J.M....Sisodiya S.M. (Epilepsy Res. 2009)
    3. Many sequence variants affecting diversity of adult human height. (PubMed id 18391951)1, 4 Gudbjartsson D.F....Stefansson K. (Nat. Genet. 2008)
    4. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    5. Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PubMed id 16303743)1, 2 Otsuki T....Isogai T. (DNA Res. 2005)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. Abnormal neurotransmission in mice lacking synaptic vesicle protein 2A (SV2A). (PubMed id 10611374)1, 3 Crowder K.M....Bajjalieh S.M. (Proc. Natl. Acad. Sci. U.S.A. 1999)
    8. Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 9872452)1, 2 Nagase T.... Ohara O. (DNA Res. 1998)
    9. Brain contains two forms of synaptic vesicle protein 2. (PubMed id 7681585)1, 3 Bajjalieh S.M....Scheller R.H. (Proc. Natl. Acad. Sci. U.S.A. 1993)
    10. Binding characteristics of levetiracetam to synaptic vesicle protein 2A (SV2A) in human brain and in CHO cells expressing the human recombinant protein. (PubMed id 16556440)7, 9 Gillard M....Fuks B. (Eur. J. Pharmacol. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 9900 HGNC: 20566 AceView: SV2A Ensembl:ENSG00000159164 euGenes: HUgn9900
    ECgene: SV2A Kegg: 9900 H-InvDB: SV2A

    (According to HUGE)
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    HUGE: KIAA0736

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for SV2A Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SV2A gene:
    Search GeneIP for patents involving SV2A

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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