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Aliases for SV2C Gene

Aliases for SV2C Gene

  • Synaptic Vesicle Glycoprotein 2C 2 3 5
  • KIAA1054 4

External Ids for SV2C Gene

Previous GeneCards Identifiers for SV2C Gene

  • GC05P075417
  • GC05P075463
  • GC05P075414
  • GC05P075379
  • GC05P070632

Summaries for SV2C Gene

GeneCards Summary for SV2C Gene

SV2C (Synaptic Vesicle Glycoprotein 2C) is a Protein Coding gene. Diseases associated with SV2C include alcohol-related birth defect and foodborne botulism. Among its related pathways are ECM-receptor interaction and Infectious disease. GO annotations related to this gene include transporter activity and transmembrane transporter activity. An important paralog of this gene is SVOP.

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

Regulatory Elements for SV2C Gene

Enhancers for SV2C Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SV2C on UCSC Golden Path with GeneCards custom track

Genomic Location for SV2C Gene

Chromosome:
5
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

Genes around SV2C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SV2C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SV2C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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:
REFSEQ proteins:

No data available for DME Specific Peptides for SV2C Gene

Domains & Families 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 :
  • Belongs to the major facilitator superfamily.
Family:
  • Belongs to the major facilitator superfamily.
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).
genes like me logo Genes that share phenotypes with SV2C: view

Animal Models for SV2C Gene

MGI Knock Outs for SV2C:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets 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 5
cytosol 2
nucleus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for SV2C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008021 synaptic vesicle IEA,TAS 15217342
GO:0030054 cell junction IEA --
GO:0030672 synaptic vesicle membrane TAS --
genes like me logo Genes that share ontologies with SV2C: view

Pathways & Interactions for SV2C Gene

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

Gene Ontology (GO) - Biological Process for SV2C Gene

None

No data available for SIGNOR curated interactions for SV2C Gene

Drugs & Compounds for SV2C Gene

(2) Drugs for SV2C Gene - From: PharmGKB and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Olanzapine Approved, Investigational Pharma Antagonist 380
calcium Nutra 0
genes like me logo Genes that share compounds with SV2C: view

Transcripts for SV2C Gene

mRNA/cDNA for SV2C Gene

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 differential expression in normal tissues according to GTEx for SV2C Gene

This gene is overexpressed in Brain - Hypothalamus (x13.1), Brain - Nucleus accumbens (basal ganglia) (x12.6), Brain - Caudate (basal ganglia) (x6.5), Brain - Putamen (basal ganglia) (x5.3), and Brain - Substantia nigra (x4.1).

Protein differential expression in normal tissues from HIPED for SV2C Gene

This gene is overexpressed in Ovary (33.8) and Urinary Bladder (28.8).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with SV2C: view

Protein tissue co-expression partners for SV2C Gene

- Elite partner

Primer Products

In Situ Assay Products

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
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
chimpanzee
(Pan troglodytes)
Mammalia SV2C 35
  • 99.31 (n)
  • 99.45 (a)
SV2C 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sv2c 35
  • 89.23 (n)
  • 96.97 (a)
oppossum
(Monodelphis domestica)
Mammalia SV2C 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SV2C 36
  • 89 (a)
OneToOne
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

(3) 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
VAR_050303 -
VAR_050304 -
rs717990 -- 76,139,488(-) TTGGC(C/T)AATTA intron-variant
rs717991 -- 76,139,551(-) TCTTA(A/G)AAGCA intron-variant
rs717992 -- 76,139,918(-) CAGTC(C/T)GCAGT intron-variant

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

Variation tolerance for SV2C Gene

Residual Variation Intolerance Score: 47.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.84; 86.94% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(3) MalaCards diseases for SV2C Gene - From: DISEASES

Disorder Aliases PubMed IDs
alcohol-related birth defect
  • fetal alcohol syndrome
foodborne botulism
  • intoxication botulism
fetal alcohol spectrum disorder
  • fetal alcohol syndrome
- elite association - COSMIC cancer census association via MalaCards
Search SV2C in MalaCards View complete list of genes associated with diseases

Relevant External Links for SV2C

Genetic Association Database (GAD)
SV2C
Human Genome Epidemiology (HuGE) Navigator
SV2C
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SV2C
genes like me logo Genes that share disorders with SV2C: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 67
  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. Expression pattern of synaptic vesicle protein 2 (SV2) isoforms in patients with temporal lobe epilepsy and hippocampal sclerosis. (PMID: 23617838) CrA"vecA9ur J. … Deprez M. (Neuropathol. Appl. Neurobiol. 2014) 3
  4. Structural basis for recognition of synaptic vesicle protein 2C by botulinum neurotoxin A. (PMID: 24240280) Benoit R.M. … Kammerer R.A. (Nature 2014) 3
  5. Genetic variant predicts bevacizumab-induced hypertension in ECOG-5103 and ECOG-2100. (PMID: 25117820) Schneider B.P. … Sledge G.W. (Br. J. Cancer 2014) 3

Products for SV2C Gene

Sources for SV2C Gene

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