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Aliases for SV2C Gene

Aliases for SV2C Gene

  • Synaptic Vesicle Glycoprotein 2C 2 3
  • KIAA1054 4

External Ids for SV2C Gene

Summaries for SV2C Gene

GeneCards Summary for SV2C Gene

SV2C (Synaptic Vesicle Glycoprotein 2C) is a Protein Coding gene. Diseases associated with SV2C include botulism. Among its related pathways are Focal adhesion. GO annotations related to this gene include transmembrane transporter activity. An important paralog of this gene is SV2B.

UniProtKB/Swiss-Prot for SV2C Gene

  • Plays a role in the control of regulated secretion in neural and endocrine cells, enhancing selectively low-frequency neurotransmission. Positively regulates vesicle fusion by maintaining the readily releasable pool of secretory vesicles (By similarity).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SV2C Gene

Genomics for SV2C Gene

Genomic Location for SV2C Gene

Start:
76,083,172 bp from pter
End:
76,353,939 bp from pter
Size:
270,768 bases
Orientation:
Plus strand

Genomic View for SV2C Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SV2C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SV2C Gene

Regulatory Elements for SV2C Gene

Proteins for SV2C Gene

  • Protein details for SV2C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q496J9-SV2C_HUMAN
    Recommended name:
    Synaptic vesicle glycoprotein 2C
    Protein Accession:
    Q496J9
    Secondary Accessions:
    • Q496K1
    • Q9UPU8

    Protein attributes for SV2C Gene

    Size:
    727 amino acids
    Molecular mass:
    82342 Da
    Quaternary structure:
    • Interacts with SYT1 in a calcium-dependent manner.

    Three dimensional structures from OCA and Proteopedia for SV2C Gene

neXtProt entry for SV2C Gene

Proteomics data for SV2C Gene at MOPED

Post-translational modifications for SV2C Gene

Other Protein References for SV2C Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for SV2C Gene

Domains for SV2C Gene

Protein Domains for SV2C Gene

Suggested Antigen Peptide Sequences for SV2C Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q496J9

UniProtKB/Swiss-Prot:

SV2C_HUMAN
Family:
  • Belongs to the major facilitator superfamily.:
    • Q496J9
genes like me logo Genes that share domains with SV2C: view

No data available for Gene Families for SV2C Gene

Function for SV2C Gene

Molecular function for SV2C Gene

UniProtKB/Swiss-Prot Function: Plays a role in the control of regulated secretion in neural and endocrine cells, enhancing selectively low-frequency neurotransmission. Positively regulates vesicle fusion by maintaining the readily releasable pool of secretory vesicles (By similarity).

Gene Ontology (GO) - Molecular Function for SV2C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity --
GO:0005515 protein binding --
GO:0022857 transmembrane transporter activity IEA --
genes like me logo Genes that share ontologies with SV2C: view

Phenotypes for SV2C Gene

GenomeRNAi human phenotypes for SV2C:
genes like me logo Genes that share phenotypes with SV2C: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for SV2C Gene

Localization for SV2C Gene

Subcellular locations from UniProtKB/Swiss-Prot for SV2C Gene

Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane; Multi-pass membrane protein. 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). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SV2C Gene COMPARTMENTS Subcellular localization image for SV2C gene
Compartment Confidence
plasma membrane 3
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SV2C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0008021 synaptic vesicle TAS 15217342
GO:0016020 membrane --
GO:0016021 integral component of membrane IEA --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with SV2C: view

Pathways for SV2C Gene

SuperPathways for SV2C Gene

Superpath Contained pathways
1 Focal adhesion
genes like me logo Genes that share pathways with SV2C: view

Pathways by source for SV2C Gene

1 KEGG pathway for SV2C Gene

Gene Ontology (GO) - Biological Process for SV2C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport --
GO:0006836 neurotransmitter transport IEA --
GO:0055085 transmembrane transport IEA --
genes like me logo Genes that share ontologies with SV2C: view

Compounds for SV2C Gene

(1) HMDB Compounds for SV2C Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2

(1) PharmGKB related drug/compound annotations for SV2C Gene

Drug/compound Annotation
olanzapine CA
genes like me logo Genes that share compounds with SV2C: view

Transcripts for SV2C Gene

mRNA/cDNA for SV2C Gene

(4) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(15) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SV2C Gene

Synaptic vesicle glycoprotein 2C:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SV2C Gene

No ASD Table

Relevant External Links for SV2C Gene

GeneLoc Exon Structure for
SV2C
ECgene alternative splicing isoforms for
SV2C

Expression for SV2C Gene

mRNA expression in normal human tissues for SV2C Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SV2C Gene

This gene is overexpressed in Brain - Hypothalamus (13.1), Brain - Nucleus accumbens (basal ganglia) (12.6), Brain - Caudate (basal ganglia) (6.5), Brain - Putamen (basal ganglia) (5.3), and Brain - Substantia nigra (4.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for SV2C Gene

SOURCE GeneReport for Unigene cluster for SV2C Gene Hs.663229

genes like me logo Genes that share expressions with SV2C: view

No data available for mRNA Expression by UniProt/SwissProt for SV2C Gene

Orthologs for SV2C Gene

This gene was present in the common ancestor of animals.

Orthologs for SV2C Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SV2C 35
  • 99.31 (n)
  • 99.45 (a)
SV2C 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SV2C 35
  • 89.9 (n)
  • 93.22 (a)
SV2C 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LOC488943 35
  • 90.1 (n)
  • 93.23 (a)
SV2C 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sv2c 35
  • 88.86 (n)
  • 97.11 (a)
Sv2c 16
Sv2c 36
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SV2C 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SV2C 36
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sv2c 35
  • 89.23 (n)
  • 96.97 (a)
chicken
(Gallus gallus)
Aves SV2C 35
  • 80.79 (n)
  • 88.31 (a)
SV2C 36
  • 88 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SV2C 36
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sv2c 35
  • 75.26 (n)
  • 82.76 (a)
zebrafish
(Danio rerio)
Actinopterygii sv2c 35
  • 70.11 (n)
  • 76.55 (a)
sv2c 36
  • 75 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG12783 36
  • 20 (a)
ManyToMany
CG14691 36
  • 21 (a)
ManyToMany
CG15221 36
  • 22 (a)
ManyToMany
CG31103 36
  • 21 (a)
ManyToMany
CG31106 36
  • 25 (a)
ManyToMany
CG31272 36
  • 23 (a)
ManyToMany
CG3168 36
  • 28 (a)
ManyToMany
CG33233 36
  • 18 (a)
ManyToMany
CG33234 36
  • 19 (a)
ManyToMany
CG3690 36
  • 20 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 29 (a)
OneToMany
Species with no ortholog for SV2C:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SV2C Gene

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

Paralogs for SV2C Gene

Paralogs for SV2C Gene

Selected SIMAP similar genes for SV2C Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with SV2C: view

Variants for SV2C Gene

Sequence variations from dbSNP and Humsavar for SV2C Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs28620 -- 76,086,068(-) ATAAA(G/T)CTGAT intron-variant
rs28621 -- 76,085,978(-) GCATT(G/T)GATTA intron-variant
rs30196 -- 76,081,726(-) TCTGG(A/C)ACTAA upstream-variant-2KB
rs30197 -- 76,082,735(-) GTCTA(C/G)TGTCT upstream-variant-2KB
rs30198 -- 76,082,944(-) CTGGA(C/T)TCTGT upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for SV2C Gene

Variant ID Type Subtype PubMed ID
nsv518475 CNV Gain 19592680
esv2588798 CNV Deletion 19546169
nsv526084 CNV Gain 19592680
essv21478 CNV CNV 17122850
dgv1813e1 CNV Complex 17122850
esv34707 CNV Gain 17911159
esv34958 CNV Gain 17911159
nsv818353 CNV Gain 17921354
nsv516875 CNV Gain 19592680
nsv327180 CNV Loss 16902084
esv2730318 CNV Deletion 23290073
esv2487643 CNV Deletion 19546169
esv1726251 CNV Insertion 17803354
nsv329230 CNV Insertion 16902084
esv989228 CNV Deletion 20482838
nsv513243 CNV Loss 21212237
nsv509074 CNV Insertion 20534489
esv1004475 CNV Insertion 20482838
esv259949 OTHER Complex 20981092
dgv1814e1 CNV Complex 17122850

Relevant External Links for SV2C Gene

HapMap Linkage Disequilibrium report
SV2C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SV2C Gene

Disorders for SV2C Gene

(1) MalaCards Diseases for SV2C Gene

Search for SV2C Gene in MalaCards »

(1) University of Copenhagen DISEASES for SV2C Gene

Relevant External Links for SV2C

Genetic Association Database (GAD)
SV2C
Human Genome Epidemiology (HuGE) Navigator
SV2C
genes like me logo Genes that share disorders with SV2C: view

No data available for UniProtKB/Swiss-Prot for SV2C Gene

Publications for SV2C Gene

  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. (PMID: 10470851) Kikuno R. … Ohara O. (DNA Res. 1999) 2 3 4
  2. SVOP, an evolutionarily conserved synaptic vesicle protein, suggests novel transport functions of synaptic vesicles. (PMID: 9801366) Janz R. … SA1dhof T.C. (J. Neurosci. 1998) 2 3
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. No major role of common SV2A variation for predisposition or levetiracetam response in epilepsy. (PMID: 18977120) Lynch J.M. … Sisodiya S.M. (Epilepsy Res. 2009) 3 48
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 48

Products for SV2C Gene

Sources for SV2C Gene

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