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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SV2A Gene

protein-coding   GIFtS: 62
GCID: GC01M149874

Synaptic Vesicle Glycoprotein 2A

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

Aliases
Synaptic Vesicle Glycoprotein 2A1 2
SV22
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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and among its related super-pathways are Non-integrin membrane-ECM interactions. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.2  NT_004487.19  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for SV2A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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)
Subcellular location: 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)
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:

  • UniProtKB: Phosphorylation by CK1 of the N-terminal cytoplasmic domain regulates interaction with SYT1 (By similarity)
  • UniProtKB: N-glycosylated (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q7L0J3

  • SV2A Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SV2A Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001265648.1  NP_055664.3  

    ENSEMBL proteins: 
     ENSP00000358142   ENSP00000358141  

    Human Recombinant Protein Products for SV2A: 
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    OriGene Protein Over-expression Lysate for SV2A
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    Novus Biologicals SV2A Protein
    Novus Biologicals SV2A Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SV2A 

    Gene Ontology (GO): 5/11 cellular component terms (GO ID links to tree view) (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



    SV2A Antibody Products: 
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    Cloud-Clone Corp. Antibodies for SV2A 
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    LSBio Antibodies in human, mouse, rat for SV2A 

    Assay Products for SV2A: 
    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    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)
    About This Section
    5/7 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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  mortality/aging  nervous system 
     normal 

    SV2A for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SV2A 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SV2A 
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    miRNA
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    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
    Products:
        
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SV2A


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SV2A About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Non-integrin membrane-ECM interactions
    ECM-receptor interaction0.42

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



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


    SV2A for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SV2A

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

    5/31 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
    SYT1P215793I2D: score=2 
    ETS1P149213I2D: score=1 
    GIT1Q9Y2X73I2D: score=1 
    MAGI2Q86UL83I2D: score=1 
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SV2A for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about SV2A

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    8/57 QIAGEN miScript miRNA 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
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      QIAGEN 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 

    24/205 AceView cDNA sequences (see all 205):

    BU553695 AL597515 BX456668 BE272606 BE784242 F10628 AI092574 BQ721750 
    CR592758 BC045111 BM724208 AI694781 BM672202 Z41461 T33716 AI567931 
    AB018279 BU168238 AL597531 T09198 AL539386 AA975823 AI598157 BE465640 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SV2A expression in normal human tissues (normalized intensities)      SV2A embryonic expression: see
    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 
     5/16 selected tissues (see all 16) fully expand
     
     Brain (Nervous System)    fully expand to see all 24 entries
             Thalamus
             Septum   
     
     Heart (Cardiovascular System)    fully expand to see all 3 entries
             heart/atrium   
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Telencephalon
     
     Nose (Sensory Organs)    fully expand to see all 2 entries
             sensory organ/nose   
     
     Peripheral Nervous System (Nervous System)
             spinal/ganglion/dorsal root ganglion   

    See SV2A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SV2A

    SOURCE GeneReport for Unigene cluster: Hs.516153
        SABiosciences 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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SV2A gene from 3/10 species (see all 10)    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 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5680331 synaptic vesicle glycoprotein 2A-like 72.46(n)
    80.16(a)
      568033  XM_691342.3  XP_696434.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG31686
    CG152216
    (see all 10)
    --
    25(a)
    20(a)
    (see all 10)
    many ↔ many
    many ↔ many
    (see all 10)
    X(6614508-6634019)
    X(11618373-11630650)


    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)
    About This Section
    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/393 SNPs in SV2A are shown (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

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 185860    OMIM disorders: --

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

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

    SV2A for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    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)
    About This Section

    PubMed articles for SV2A gene, integrated from 9 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. (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. (2009)
    3. Many sequence variants affecting diversity of adult human height. (PubMed id 18391951)1, 4 Gudbjartsson D.F....Stefansson K. (2008)
    4. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (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. (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. (2004)
    7. Abnormal neurotransmission in mice lacking synaptic vesicle protein 2A (SV2A). (PubMed id 10611374)1, 3 Crowder K.M....Bajjalieh S.M. (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. (1998)
    9. Brain contains two forms of synaptic vesicle protein 2. (PubMed id 7681585)1, 3 Bajjalieh S.M....Scheller R.H. (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. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 9900 HGNC: 20566 AceView: SV2A Ensembl:ENSG00000159164 euGenes: HUgn9900
    ECgene: SV2A Kegg: 9900 H-InvDB: SV2A

    (According to HUGE)
    About This Section
    HUGE: KIAA0736

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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