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

SV2C Gene

protein-coding   GIFtS: 55
GCID: GC05P075379

Synaptic Vesicle Glycoprotein 2C

  See related disease
at  

(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 2C1 2
Synaptic Vesicle Protein 2C2
KIAA10543

External Ids:    HGNC: 306701   Entrez Gene: 229872   Ensembl: ENSG000001220127   OMIM: 6102915   UniProtKB: Q496J93   

Export aliases for SV2C gene to outside databases

Previous GC identifers: GC05P075417 GC05P075463 GC05P075414 GC05P070632


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for SV2C Gene: 
SV2C (synaptic vesicle glycoprotein 2C) is a protein-coding gene. Diseases associated with SV2C include botulism, and among its related super-pathways are Non-integrin membrane-ECM interactions. GO annotations related to this gene include transmembrane transporter activity. An important paralog of this gene is SV2B.

UniProtKB/Swiss-Prot: SV2C_HUMAN, Q496J9
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)




(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_000005.9  NT_006713.15  NC_018916.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SV2C gene promoter:
         c-Fos   Sox5   AP-1   JunB   Lmo2   Fra-1   FosB   JunD   HOXA5   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSV2C promoter sequence
   Search SABiosciences Chromatin IP Primers for SV2C

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SV2C


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

Entrez Gene cytogenetic band: 5q13.3   Ensembl cytogenetic band:  5q13.3   HGNC cytogenetic band: 5q13

SV2C Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SV2C gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P075379:  view genomic region     (about GC identifiers)

Start:
75,378,997 bp from pter      End:
75,649,764 bp from pter
Size:
270,768 bases      Orientation:
plus 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: SV2C_HUMAN, Q496J9 (See protein sequence)
Recommended Name: Synaptic vesicle glycoprotein 2C  
Size: 727 amino acids; 82342 Da
Subunit: Interacts with SYT1 in a calcium-dependent manner (By similarity)
Subcellular location: Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane; Multi-pass membrane
protein (By similarity). Note=Enriched in small synaptic vesicles and adrenal microsomes, not present in
chromaffin granules. Associated with both insulin granules and synaptic-like microvesicles in insulin-secreting
cells of the pancreas (By similarity)
Secondary accessions: Q496K1 Q9UPU8

Explore the universe of human proteins at neXtProt for SV2C: NX_Q496J9

Explore proteomics data for SV2C at MOPED 

Post-translational modifications:

  • UniProtKB: N-glycosylated (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q496J9

  • SV2C Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SV2C Protein Expression
    REFSEQ proteins: NP_055794.1  
    ENSEMBL proteins: 
     ENSP00000423541   ENSP00000316983  

    Human Recombinant Protein Products for SV2C: 
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    Novus Biologicals SV2C Proteins
    Novus Biologicals SV2C Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SV2C 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008021synaptic vesicle ----
    GO:0016020membrane ----
    GO:0016021integral to membrane IEA--
    GO:0030054cell junction IEA--
    GO:0030672synaptic vesicle membrane IEA--

    SV2C for ontologies           About GeneDecksing



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    Cloud-Clone Corp. ELISAs for SV2C 
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    (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 Q496J9

    ProtoNet protein and cluster: Q496J9

    UniProtKB/Swiss-Prot: SV2C_HUMAN, Q496J9
    Similarity: Belongs to the major facilitator superfamily


    SV2C 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: SV2C_HUMAN, Q496J9
    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): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity ----
    GO:0022857transmembrane transporter activity IEA--
         
    SV2C for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SV2C:
     Increased HPV18 LCR reporter a 

    Animal Models:
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    (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 SV2C 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 SV2C):
        ECM-receptor interaction


    SV2C for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SV2C

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    5/13 Interacting proteins for SV2C (Q496J93 ENSP000003169834) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SYT1P215793, ENSP000002612054I2D: score=1 STRING: ENSP00000261205
    LAMA1ENSP000003743094STRING: ENSP00000374309
    LAMA2ENSP000004003654STRING: ENSP00000400365
    LAMA3ENSP000003245324STRING: ENSP00000324532
    LAMA4ENSP000002305384STRING: ENSP00000230538
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport ----
    GO:0006836neurotransmitter transport IEA--
    GO:0055085transmembrane transport ----

    SV2C 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SV2C

    1 HMDB Compound for SV2C    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    Search CenterWatch for drugs/clinical trials and news about SV2C

    (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,
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    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 SV2C gene: 
    NM_014979.1  

    Unigene Cluster for SV2C:

    Synaptic vesicle glycoprotein 2C
    Hs.663229  [show with all ESTs]
    Unigene Representative Sequence: AB028977
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000502798(uc003kei.1) ENST00000322285 ENST00000506257
    miRNA
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    hsa-miR-135b hsa-miR-3119 hsa-miR-135a
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SV2C

    Additional mRNA sequence: 

    AB028977.1 AK094917.1 BC100824.1 BC100825.1 BC100826.1 BC100827.1 

    3 DOTS entries:

    DT.423786  DT.99935532  DT.97824627 

    15 AceView cDNA sequences:

    AB028977 BG190149 BQ187555 BM727549 AA476424 AK094917 BM675550 BM931755 
    BX280768 AA476528 AL707553 BQ184459 BG190752 BG461312 BQ723262 

    GeneLoc Exon Structure


    (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

    SV2C expression in normal human tissues (normalized intensities)      SV2C embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGTGTCTGT
    SV2C Expression
    About this image


    SV2C expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/7 selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 10 entries
             Thalamus
             ganglion/cranial   
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             Dorsal Root Ganglion   
     
     Peripheral Nervous System (Nervous System)
             spinal/ganglion/dorsal root ganglion   
     
     Eye (Sensory Organs)
             Retina

    See SV2C Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SV2C

    SOURCE GeneReport for Unigene cluster: Hs.663229
        SABiosciences Custom PCR Arrays for SV2C
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SV2C

    (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 SV2C gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sv2c1 , 5 synaptic vesicle glycoprotein 2c1, 5 88.86(n)1
    97.11(a)1
      13 (50.47 cM)5
    752091  NM_029210.11  NP_083486.11 
     959594435 
    chicken
    (Gallus gallus)
    Aves SV2C1 synaptic vesicle glycoprotein 2C 80.79(n)
    88.31(a)
      431597  XM_429151.3  XP_429151.3 
    lizard
    (Anolis carolinensis)
    Reptilia SV2C6
    synaptic vesicle glycoprotein 2C
    83(a)
    1 ↔ 1
    2(14444087-14540091)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5623451 novel protein similar to vertebrate synaptic vesicle more 70.4(n)
    77.18(a)
      562345  NM_001128339.1  NP_001121811.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG31686
    CG311066
    (see all 10)
    --
    26(a)
    23(a)
    (see all 10)
    many ↔ many
    many ↔ many
    (see all 10)
    X(6614508-6634019)
    3R(21042021-21044430)


    ENSEMBL Gene Tree for SV2C (if available)
    TreeFam Gene Tree for SV2C (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SV2C gene
    SV2B2  SV2A2  SVOPL2  SVOP2  
    3 SIMAP similar genes for SV2C using alignment to 2 protein entries:     SV2C_HUMAN (see all proteins):
    SV2A    SV2B    SVOP

    SV2C 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

    10/4861 SNPs in SV2C are shown (see all 4861)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs14230991,2
    C,F,A,H--70632081(+) TGAACC/TACTGA 1 -- ut5124Minor allele frequency- T:0.40EA NA NS WA 2556
    rs1998444961,2
    --70632117(+) TTCTCA/GTTGGC 1 -- ut510--------
    rs2012831601,2
    C--70632147(+) GAAGAA/CTCTTA 2 E D mis10--------
    rs1439988421,2
    C--70632190(+) AGGACA/CTTGCC 2 I L mis10--------
    rs2020240521,2
    --70632201(+) AGAGAC/GGTGAA 2 D E mis10--------
    rs3769933171,2
    C--70632204(+) GAGGTA/GAAGAA 2 V syn10--------
    rs3708574521,2
    C--70632245(+) GGACCA/GAGCCC 2 Q R mis10--------
    rs1900713861,2
    C--70632404(+) GATCTA/GTGAGG 2 Y C mis10--------
    rs2017936321,2
    C--70632438(+) ATGAAC/TCAAGC 2 N syn11Minor allele frequency- T:0.00EU 1317
    rs1464150051,2
    C--70632443(+) CCAAGC/TGAAGG 2 A V mis11Minor allele frequency- T:0.00EU 1319

    HapMap Linkage Disequilibrium report for SV2C (75378997 - 75628997 bp, first 250kb of SV2C)

    Structural Variations
         Database of Genomic Variants (DGV) 10/20 variations for SV2C (see all 20):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2730318CNV Deletion23290073
    esv2588798CNV Deletion19546169
    esv989228CNV Deletion20482838
    esv2487643CNV Deletion19546169
    esv1726251CNV Insertion17803354
    nsv509074CNV Insertion20534489
    esv1004475CNV Insertion20482838
    nsv329230CNV Insertion16902084
    nsv327180CNV Loss16902084
    nsv513243CNV Loss21212237

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 610291    OMIM disorders: --

    2 diseases for SV2C:    About MalaCards
    botulism    

    1 disease from the University of Copenhagen DISEASES database for SV2C:
    Botulism

    SV2C for disorders           About GeneDecksing

    Genetic Association Database (GAD): SV2C
    Human Genome Epidemiology (HuGE) Navigator: SV2C (2 documents)

    Export disorders for SV2C 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 SV2C gene, integrated from 9 sources (see all 13):
    (articles sorted by number of sources associating them with SV2C)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10470851)1, 2, 3 Kikuno R....Ohara O. (1999)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    3. No major role of common SV2A variation for predisposition or levetiracetam response in epilepsy. (PubMed id 18977120)1, 4 Lynch J.M....Sisodiya S.M. (2009)
    4. 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)
    5. SVOP, an evolutionarily conserved synaptic vesicle protein, suggests novel transport functions of synaptic vesicles. (PubMed id 9801366)1, 3 Janz R....Sudhof T.C. (1998)
    6. A genome-wide association study for venous thromboembo lism: the extended cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium. (PubMed id 23650146)1 Tang W....Smith N.L. (2013)
    7. Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study. (PubMed id 17903297)4 Seshadri S....Wolf P.A. (2007)
    8. Genome-wide association with select biomarker traits in the Framingham Heart Study. (PubMed id 17903293)4 Benjamin E.J....Vasan R.S. (2007)
    9. SV2B regulates synaptotagmin 1 by direct interaction. (PubMed id 15466855)1 Lazzell D.R....Janz R. (2004)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 22987 HGNC: 30670 AceView: SV2C Ensembl:ENSG00000122012 euGenes: HUgn22987
    ECgene: SV2C Kegg: 22987 H-InvDB: SV2C

    (According to HUGE)
    About This Section
    HUGE: KIAA1054

    (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 SV2C 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 SV2C gene:
    Search GeneIP for patents involving SV2C

    GeneCards and IP:
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