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Aliases for SV2B Gene

Aliases for SV2B Gene

  • Synaptic Vesicle Glycoprotein 2B 2 3 5
  • Synaptic Vesicle Protein 2B Homolog 3
  • HsT19680 3
  • KIAA0735 4

External Ids for SV2B Gene

Previous GeneCards Identifiers for SV2B Gene

  • GC15P088231
  • GC15P085534
  • GC15P089356
  • GC15P089498
  • GC15P089373
  • GC15P089444
  • GC15P089570
  • GC15P091643
  • GC15P067755

Summaries for SV2B Gene

Entrez Gene Summary for SV2B Gene

  • This gene encodes a member of the synaptic vesicle proteins 2 (SV2) family and major facilitator superfamily of proteins. This protein and other members of the family are localized to synaptic vesicles and may function in the regulation of vesicle trafficking and exocytosis. Studies in mice suggest that the encoded protein may act as a protein receptor for botulinum neurotoxin E in neurons, and that this protein may be important for the integrity of the glomerular filtration barrier. This gene shows reduced expression in areas of synaptic loss in the hippocampus of human temporal lobe epilepsy patients. [provided by RefSeq, Sep 2016]

GeneCards Summary for SV2B Gene

SV2B (Synaptic Vesicle Glycoprotein 2B) is a Protein Coding gene. Diseases associated with SV2B include Prostate Small Cell Carcinoma and Temporal Lobe Epilepsy. 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 SV2B Gene

  • Probably plays a role in the control of regulated secretion in neural and endocrine cells.

Gene Wiki entry for SV2B Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SV2B Gene

Genomics for SV2B Gene

Regulatory Elements for SV2B Gene

Enhancers for SV2B 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
GH15F091116 0.8 ENCODE 46.2 +17.2 17234 1.5 CTCF PKNOX1 TBL1XR1 RARA RELA GATA3 POLR2A EED CREM CHD2 SV2B GC15P091158
GH15F091107 0.4 FANTOM5 22.2 +7.5 7505 0.2 ZNF781 SV2B NIFKP5 ENSG00000270322 GC15P091158
GH15F091114 0.3 FANTOM5 6.2 +14.7 14744 0.1 SV2B GC15P091158
GH15F091559 0.5 FANTOM5 1.6 +459.5 459529 0.2 SREBF1 IKZF1 CRAT37 SV2B ENSG00000258954 LOC105370973
GH15F091129 0.3 FANTOM5 2.3 +30.3 30318 0.3 SV2B GC15P091158
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SV2B on UCSC Golden Path with GeneCards custom track

Promoters for SV2B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001798124 679 801 CTCF KLF1 SUZ12 L3MBTL2 RNF2 CBX2 ZBTB8A CBX8 ZBTB48 EGR1

Genomic Location for SV2B Gene

Chromosome:
15
Start:
91,099,721 bp from pter
End:
91,301,309 bp from pter
Size:
201,589 bases
Orientation:
Plus strand

Genomic View for SV2B Gene

Genes around SV2B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SV2B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SV2B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SV2B Gene

Proteins for SV2B Gene

  • Protein details for SV2B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7L1I2-SV2B_HUMAN
    Recommended name:
    Synaptic vesicle glycoprotein 2B
    Protein Accession:
    Q7L1I2
    Secondary Accessions:
    • B4DH30
    • C6G489
    • O94840
    • Q6IAR8

    Protein attributes for SV2B Gene

    Size:
    683 amino acids
    Molecular mass:
    77444 Da
    Quaternary structure:
    • Interacts with SYT1 in a calcium-independent manner. Forms a complex with SYT1, syntaxin-1 and SNAP25 (By similarity).
    SequenceCaution:
    • Sequence=BAA34455.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for SV2B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SV2B Gene

Post-translational modifications for SV2B Gene

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for SV2B

No data available for DME Specific Peptides for SV2B Gene

Domains & Families for SV2B Gene

Suggested Antigen Peptide Sequences for SV2B Gene

Graphical View of Domain Structure for InterPro Entry

Q7L1I2

UniProtKB/Swiss-Prot:

SV2B_HUMAN :
  • Belongs to the major facilitator superfamily.
Family:
  • Belongs to the major facilitator superfamily.
genes like me logo Genes that share domains with SV2B: view

No data available for Gene Families for SV2B Gene

Function for SV2B Gene

Molecular function for SV2B Gene

UniProtKB/Swiss-Prot Function:
Probably plays a role in the control of regulated secretion in neural and endocrine cells.

Gene Ontology (GO) - Molecular Function for SV2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity IEA --
GO:0005515 protein binding IPI 25416956
GO:0022857 transmembrane transporter activity IEA --
genes like me logo Genes that share ontologies with SV2B: view
genes like me logo Genes that share phenotypes with SV2B: view

Animal Models for SV2B Gene

MGI Knock Outs for SV2B:

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 SV2B Gene

Localization for SV2B Gene

Subcellular locations from UniProtKB/Swiss-Prot for SV2B Gene

Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane; Multi-pass membrane protein. Cytoplasmic vesicle, secretory vesicle, acrosome. Note=Associated with synaptic-like microvesicles but not with insulin-containing vesicles in insulin-secreting cells of the pancreas (By similarity). Localizes to microvesicles in the pinealocytes. Localizes to the acrosome in spermatids (By similarity). {ECO:0000250 UniProtKB:Q63564}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SV2B gene
Compartment Confidence
plasma membrane 4
peroxisome 2

Gene Ontology (GO) - Cellular Components for SV2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001669 acrosomal vesicle IEA --
GO:0005886 plasma membrane TAS --
GO:0008021 synaptic vesicle TAS 15217342
GO:0016020 membrane ISS --
GO:0016021 integral component of membrane IBA --
genes like me logo Genes that share ontologies with SV2B: view

Pathways & Interactions for SV2B Gene

genes like me logo Genes that share pathways with SV2B: view

Gene Ontology (GO) - Biological Process for SV2B 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 SV2B: view

No data available for SIGNOR curated interactions for SV2B Gene

Drugs & Compounds for SV2B Gene

(1) Drugs for SV2B Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
genes like me logo Genes that share compounds with SV2B: view

Transcripts for SV2B Gene

Unigene Clusters for SV2B Gene

Synaptic vesicle glycoprotein 2B:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SV2B Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13
SP1: -
SP2: -
SP3:

Relevant External Links for SV2B Gene

GeneLoc Exon Structure for
SV2B
ECgene alternative splicing isoforms for
SV2B

Expression for SV2B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SV2B Gene

mRNA differential expression in normal tissues according to GTEx for SV2B Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x8.9), Brain - Cortex (x8.2), Brain - Cerebellar Hemisphere (x7.2), Brain - Anterior cingulate cortex (BA24) (x7.1), and Brain - Cerebellum (x5.8).

Protein differential expression in normal tissues from HIPED for SV2B Gene

This gene is overexpressed in Frontal cortex (30.7), Retina (21.9), and Brain (15.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SV2B Gene



Protein tissue co-expression partners for SV2B Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SV2B Gene:

SV2B

SOURCE GeneReport for Unigene cluster for SV2B Gene:

Hs.21754
genes like me logo Genes that share expression patterns with SV2B: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for SV2B Gene

Orthologs for SV2B Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SV2B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SV2B 35
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SV2B 34 35
  • 91.9 (n)
cow
(Bos Taurus)
Mammalia SV2B 34 35
  • 90.78 (n)
rat
(Rattus norvegicus)
Mammalia Sv2b 34
  • 89.85 (n)
mouse
(Mus musculus)
Mammalia Sv2b 34 16 35
  • 89.6 (n)
oppossum
(Monodelphis domestica)
Mammalia SV2B 35
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SV2B 35
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves SV2B 34 35
  • 78.25 (n)
lizard
(Anolis carolinensis)
Reptilia SV2B 35
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sv2b 34
  • 71.96 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC101883740 34
  • 66.27 (n)
SV2B (2 of 3) 35
  • 63 (a)
OneToMany
sv2bb 35
  • 63 (a)
OneToMany
sv2ba 35
  • 59 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG3168 36 35
  • 33 (a)
CG31106 35
  • 23 (a)
ManyToMany
CG31272 35
  • 22 (a)
ManyToMany
CG3690 35
  • 22 (a)
ManyToMany
CG14691 35
  • 20 (a)
ManyToMany
CG15221 35
  • 20 (a)
ManyToMany
CG31103 35
  • 20 (a)
ManyToMany
CG33233 35
  • 20 (a)
ManyToMany
CG12783 35
  • 19 (a)
ManyToMany
CG33234 35
  • 18 (a)
ManyToMany
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAPB1E7.08c 34
  • 41.05 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 29 (a)
OneToMany
Species where no ortholog for SV2B 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)
  • 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 SV2B Gene

ENSEMBL:
Gene Tree for SV2B (if available)
TreeFam:
Gene Tree for SV2B (if available)

Paralogs for SV2B Gene

Paralogs for SV2B Gene

(2) SIMAP similar genes for SV2B Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with SV2B: view

Variants for SV2B Gene

Sequence variations from dbSNP and Humsavar for SV2B Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs193920952 Uncertain significance 91,284,050(+) ACTGT(C/T)GGTTT intron-variant, reference, missense
rs1000641 -- 91,132,936(+) CCAGT(A/G)CATAA intron-variant
rs1002556 -- 91,231,653(-) CAGGT(G/T)GAGGT intron-variant
rs1003759 -- 91,134,327(-) GAAGA(A/G)GTTGA intron-variant
rs1005141 -- 91,241,247(-) CTGTG(A/C)TTATG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SV2B Gene

Variant ID Type Subtype PubMed ID
nsv833094 CNV gain 17160897
nsv1663 CNV deletion 18451855
nsv1142867 CNV tandem duplication 24896259
nsv1116766 CNV tandem duplication 24896259
nsv1053084 CNV gain 25217958
esv8530 CNV gain 19470904
esv3892722 CNV loss 25118596
esv3637237 CNV loss 21293372
esv2760055 CNV gain 17122850
esv2750024 CNV deletion 23290073
esv2750023 CNV deletion 23290073
esv2750022 CNV deletion 23290073
esv2750021 CNV deletion 23290073
esv26699 CNV loss 19812545
esv26104 CNV loss 19812545
esv2011261 CNV deletion 18987734
dgv1261n106 CNV deletion 24896259

Variation tolerance for SV2B Gene

Residual Variation Intolerance Score: 40.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.93; 49.02% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SV2B Gene

Human Gene Mutation Database (HGMD)
SV2B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SV2B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SV2B Gene

Disorders for SV2B Gene

MalaCards: The human disease database

(2) MalaCards diseases for SV2B Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
prostate small cell carcinoma
  • prostate oat cell carcinoma
temporal lobe epilepsy
  • epilepsy, temporal lobe
- elite association - COSMIC cancer census association via MalaCards
Search SV2B in MalaCards View complete list of genes associated with diseases

Relevant External Links for SV2B

Genetic Association Database (GAD)
SV2B
Human Genome Epidemiology (HuGE) Navigator
SV2B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SV2B
genes like me logo Genes that share disorders with SV2B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SV2B Gene

Publications for SV2B Gene

  1. Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 9872452) Nagase T. … Ohara O. (DNA Res. 1998) 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. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  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 46 64
  5. Linkage disequilibrium mapping of a chromosome 15q25-26 major depression linkage region and sequencing of NTRK3. (PMID: 18367154) Verma R. … Levinson D.F. (Biol. Psychiatry 2008) 3 46 64

Products for SV2B Gene

Sources for SV2B Gene

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