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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 Fetal Alcohol Spectrum Disorder. Among its related pathways are HIV Life Cycle and Uptake and actions of bacterial toxins. GO annotations related to this gene include transporter activity and transmembrane transporter activity. An important paralog of this gene is SV2A.

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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05F076256 1.1 Ensembl ENCODE 11.4 +173.2 173153 0.6 CTCF CEBPG ZNF2 RAD21 EED ZNF143 SMC3 PRDM10 ETV6 CREM LOC100132039 LOC105379041 SV2C SAP18P1 HMGN2P4 PDCD5P2
GH05F076037 0.2 Ensembl 10.9 -45.3 -45282 0.6 ZBTB10 KLF1 ZBTB8A ZNF518A ZFP69B ZFHX2 ZNF692 ZBTB48 GLIS1 ZBTB33 LOC105379041 SAP18P1 LOC100132039 SV2C LOC100996384
GH05F076180 1.1 Ensembl ENCODE 10.9 +98.2 98210 2.0 PKNOX1 ATF1 SIN3A CBX5 GATA2 FOS CREM SMARCA5 ZBTB11 CEBPB LOC105379041 SV2C LOC100132039 SAP18P1 RAP1BL GC05M076242
GH05F076197 0.2 ENCODE 10.9 +113.9 113919 0.2 PKNOX1 TAL1 LOC105379041 SV2C LOC100132039 SAP18P1 RAP1BL GC05M076242
GH05F076198 0.6 ENCODE 10.9 +114.1 114119 0.2 PKNOX1 PBX2 TAL1 LOC105379041 SV2C LOC100132039 SAP18P1 RAP1BL GC05M076242
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

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

Post-translational modifications for SV2C Gene

Other Protein References for SV2C Gene

No data available for DME Specific Peptides for SV2C Gene

Domains & Families 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).

Gene Ontology (GO) - Molecular Function for SV2C Gene

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

Animal Models for SV2C Gene

MGI Knock Outs for SV2C:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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:0005886 plasma membrane TAS --
GO:0008021 synaptic vesicle TAS 15217342
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA,IBA --
GO:0030054 cell junction IEA --
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

Interacting Proteins for SV2C Gene

Gene Ontology (GO) - Biological Process for SV2C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001504 neurotransmitter uptake IBA --
GO:0006810 transport IEA --
GO:0006836 neurotransmitter transport IEA --
GO:0055085 transmembrane transport IEA --
genes like me logo Genes that share ontologies with SV2C: view

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 395
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:

Inhibitory RNA Products

Flow Cytometry Products

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



Protein tissue co-expression partners for SV2C Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SV2C Gene:

SV2C

SOURCE GeneReport for Unigene cluster for SV2C Gene:

Hs.663229
genes like me logo Genes that share expression patterns with SV2C: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia SV2C 34 35
  • 99.31 (n)
dog
(Canis familiaris)
Mammalia SV2C 35
  • 93 (a)
OneToOne
LOC488943 34
  • 90.1 (n)
oppossum
(Monodelphis domestica)
Mammalia SV2C 35
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SV2C 34 35
  • 89.9 (n)
rat
(Rattus norvegicus)
Mammalia Sv2c 34
  • 89.23 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SV2C 35
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sv2c 34 16 35
  • 88.86 (n)
chicken
(Gallus gallus)
Aves SV2C 34 35
  • 80.79 (n)
lizard
(Anolis carolinensis)
Reptilia SV2C 35
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sv2c 34
  • 75.26 (n)
zebrafish
(Danio rerio)
Actinopterygii sv2c 34 35
  • 70.11 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG3168 35
  • 28 (a)
ManyToMany
CG31106 35
  • 25 (a)
ManyToMany
CG31272 35
  • 23 (a)
ManyToMany
CG15221 35
  • 22 (a)
ManyToMany
CG14691 35
  • 21 (a)
ManyToMany
CG31103 35
  • 21 (a)
ManyToMany
CG12783 35
  • 20 (a)
ManyToMany
CG3690 35
  • 20 (a)
ManyToMany
CG33234 35
  • 19 (a)
ManyToMany
CG33233 35
  • 18 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 29 (a)
OneToMany
Species where no ortholog for SV2C was found in the sources mined by GeneCards:
  • 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
rs1002541 -- 76,187,077(+) TATGC(A/G)ATGTC intron-variant
rs10035663 -- 76,255,914(+) TCTTA(C/G)AATCT intron-variant
rs10035724 -- 75,979,439(+) ataat(C/T)acatg intron-variant
rs10036293 -- 76,226,072(+) ATACT(C/G)TAATG intron-variant
rs10036358 -- 76,068,298(+) ATTGA(A/G)ATACA intron-variant

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

Variant ID Type Subtype PubMed ID
dgv1107e214 CNV gain 21293372
dgv360e215 CNV deletion 23714750
dgv5700n100 CNV gain 25217958
dgv5701n100 CNV gain 25217958
esv1004475 CNV insertion 20482838
esv1726251 CNV insertion 17803354
esv2487643 CNV deletion 19546169
esv2588798 CNV deletion 19546169
esv2730318 CNV deletion 23290073
esv2759351 CNV gain 17122850
esv2759352 CNV gain 17122850
esv2763917 CNV gain 21179565
esv3302975 CNV tandem duplication 20981092
esv3326642 CNV duplication 20981092
esv3353515 CNV duplication 20981092
esv3362900 CNV duplication 20981092
esv3425598 CNV duplication 20981092
esv34707 CNV gain 17911159
esv34958 CNV gain 17911159
esv3566119 CNV deletion 23714750
esv3575857 CNV gain 25503493
esv3605461 CNV loss 21293372
esv989228 CNV deletion 20482838
nsv1015349 CNV gain 25217958
nsv1033350 CNV gain 25217958
nsv1074843 CNV deletion 25765185
nsv1120508 CNV tandem duplication 24896259
nsv1129259 CNV insertion 24896259
nsv1137009 CNV deletion 24896259
nsv1145064 CNV deletion 24896259
nsv327180 CNV deletion 16902084
nsv329230 CNV insertion 16902084
nsv509074 CNV insertion 20534489
nsv513243 CNV loss 21212237
nsv516875 CNV gain 19592680
nsv518475 CNV gain 19592680
nsv526084 CNV gain 19592680
nsv598676 CNV gain 21841781
nsv598677 CNV gain 21841781
nsv598678 CNV loss 21841781
nsv818353 CNV gain 17921354
nsv955875 CNV deletion 24416366
nsv964896 CNV duplication 23825009
nsv968951 CNV duplication 23825009

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SV2C

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

Disorders for SV2C Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
alcohol-related birth defect
  • fetal alcohol syndrome
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 64
  2. 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 46 64
  3. 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 46 64
  4. 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 64
  5. 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 64

Products for SV2C Gene

Sources for SV2C Gene

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