SV2C Gene
protein-coding GIFtS: 54
GCID: GC05P075379
|
|
synaptic vesicle glycoprotein 2C
| |
Aliases
for SV2C gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Synaptic Vesicle Glycoprotein 2C1 2 | | Synaptic Vesicle Protein 2C2 | | KIAA10543 |
Export aliases for SV2C gene to outside databasesPrevious GC identifers: GC05P075417 GC05P075463 GC05P075414 GC05P070632 |
Summaries
for SV2C gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
UniProtKB/Swiss-Prot: SV2C_HUMAN, Q496J9Function: Plays a role in the control of regulated secretion in neural and endocrine cells, enhancing selectivelylow-frequency neurotransmission. Positively regulates vesicle fusion by maintaining the readily releasable pool ofsecretory vesicles (By similarity)
|
Genomic Views
for SV2C 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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000005.9 NC_018916.1 NT_006713.15
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
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: 5q13SV2C Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
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 |
|
Proteins
for SV2C gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
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 (Bysimilarity)
Secondary accessions: Q496K1 Q9UPU8Explore the universe of human proteins at neXtProt for SV2C: NX_Q496J9
Post-translational modifications:
N-glycosylated (By similarity)1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q496J9
SV2C Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_055794.1
ENSEMBL proteins: ENSP00000423541 ENSP00000316983
Human Recombinant Protein Products:
Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table
SV2C for ontologies About GeneDecksing
SV2C Antibody Products:
Assay Products for SV2C: |
Protein
Domains /
Families
for SV2C gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
SV2C for domains About GeneDecksing
5/6 InterPro domains/families (see all 6):Graphical View of Domain Structure for InterPro Entry Q496J9ProtoNet protein and cluster: Q496J9 UniProtKB/Swiss-Prot: SV2C_HUMAN, Q496J9Similarity: Belongs to the major facilitator superfamily |
Function
for SV2C gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
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,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: SV2C_HUMAN, Q496J9Function: Plays a role in the control of regulated secretion in neural and endocrine cells, enhancing selectivelylow-frequency neurotransmission. Positively regulates vesicle fusion by maintaining the readily releasable pool ofsecretory vesicles (By similarity)
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SV2C (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SV2C
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: SV2C (NM_014979) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SV2C | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SV2C |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SV2C |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0022857 | transmembrane transporter activity |
IEA | -- |
SV2C for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for SV2C:
|
Pathways & Interactions
for SV2C gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | ECM-receptor interaction | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 
Kegg Pathway (Kegg details for SV2C):
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)About this table
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006836 | neurotransmitter transport |
IEA | -- |
SV2C for ontologies About GeneDecksing
|
Drugs & Compounds
for SV2C gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for SV2C
1 HMDB Compound for SV2C About this table
Search CenterWatch for drugs/clinical trials and news about SV2C
|
Transcripts
for SV2C gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 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,
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,
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: AB0289773 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000502798(uc003kei.1) ENST00000322285 ENST00000506257
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SV2C (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SV2C
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: SV2C (NM_014979) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SV2C | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SV2C |
Additional cDNA 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 BX280768 BM727549 AA476528 AA476424 BQ187555 BG190149 BM675550 AK094917 BM931755 BQ184459 AL707553 BG190752 BG461312 BQ723262
GeneLoc Exon Structure
|
Expression
for SV2C gene
(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)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTGTGTCTGT
About this image
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
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SV2C
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SV2C | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SV2C | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SV2C | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SV2C |
Orthologs
for SV2C gene
(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 last universal common ancestor (LUCA).
Orthologs for SV2C gene from 6/19 species (see all 19) About this table
ENSEMBL Gene Tree for SV2C (if available)
TreeFam Gene Tree for SV2C (if available) |
Paralogs
for SV2C gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for SV2C gene
- SV2B2 SVOPL2 SV2A2 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
|
Genomic Variants
for SV2C gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 5 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for SV2C (75378997 - 75628997 bp, first 250kb of SV2C)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 9 variations for SV2C
6 CNVs: 99174 8488 8489 9511 2583 2582
3 Indels: 40768 40767 12700 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SV2C |
|
Disorders
/ Diseases
for SV2C gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
SV2C for disorders About GeneDecksing
OMIM gene information: 610291
OMIM disorders: --
1  disease for SV2C: About MalaCardsbotulism
1 disease from the University of Copenhagen DISEASES database for SV2C:Botulism Human Genome Epidemiology (HuGE) Navigator: SV2C (2 documents)
Export disorders for SV2C gene to outside databases
|
Publications
for SV2C gene (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:
(articles sorted by number of sources associating them with SV2C) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- 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)
- 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)
- 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)
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
- No major role of common SV2A variation for predisposition or levetiracetam response in epilepsy. (PubMed id 18977120)1 Lynch J.M....Sisodiya S.M. (2009)
- SV2B regulates synaptotagmin 1 by direct interaction. (PubMed id 15466855)1 Lazzell D.R....Janz R. (2004)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
- The synaptic vesicle protein 2C mediates the uptake of botulinum neurotoxin A into phrenic nerves. (PubMed id 16545378)9 Mahrhold S....Binz T. (2006)
- Drug Insight: biological effects of botulinum toxin A in the lower urinary tract. (PubMed id 18461049)9 Chancellor M.B....Roger Aoki K. (2008)
|
External Searches for SV2C gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing SV2C gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing SV2C gene
(According to HUGE)
About This Section
| |
Specialized Databases showing SV2C gene(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
|
| Name | Description |
| PharmGKB entry for SV2C | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for SV2C gene:
Search GeneIP for patents involving SV2C
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for SV2C gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for SV2C | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SV2C | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SV2C | | | OriGene Protein Over-expression Lysate for SV2C | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for SV2C | | Browse 3'-UTR reporter clones for miRNA target validation | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SV2C | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SV2C | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for SV2C | | OriGene Custom Protein Services for SV2C | | | OriGene Custom Immunoassay Development | | |
| |
 |
 |
| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat SV2C | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SV2C | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SV2C | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SV2C | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SV2C | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SV2C |
| |
 |  |  |  | |
| | | | Search Tocris compounds for SV2C |
| |  |  |  |  | | | | |
 |
 |
 |
 | | | SV2C Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SV2C |
|  |  |  | | | | Search ThermoFisher Antibodies for SV2C |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SV2C |
|
|
|
|
