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 ... See more...

Aliases for SV2B Gene

Aliases for SV2B Gene

  • Synaptic Vesicle Glycoprotein 2B 2 3 4 5
  • HsT19680 2 3
  • KIAA0735 2 4
  • Synaptic Vesicle Protein 2B Homolog 3
  • SV2B 5

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 Temporal Lobe Epilepsy and Foodborne Botulism. Among its related pathways are Toxicity of botulinum toxin type F (BoNT/F) and Uptake and actions of bacterial toxins. Gene Ontology (GO) annotations related to this gene include transporter activity and transmembrane transporter activity. An important paralog of this gene is SV2A.

UniProtKB/Swiss-Prot Summary for SV2B Gene

  • Probably plays a role in the control of regulated secretion in neural and endocrine cells.
  • (Microbial infection) Receptor for the C.botulinum neurotoxin type A2 (BoNT/A, botA); glycosylation is not essential but enhances the interaction (PubMed:29649119). Probably also serves as a receptor for the closely related C.botulinum neurotoxin type A1.

Gene Wiki entry for SV2B Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SV2B Gene

Genomics for SV2B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SV2B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J091099 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 617.8 +0.9 868 1.5 CTCF PRDM10 LARP7 POLR2A SMAD5 EZH2 YY1 ZNF341 EED ZBTB44 SV2B ENSG00000285661 RF00017-1901 SLCO3A1
GH15J091157 Promoter 0.3 EPDnew 600.2 +58.3 58261 0.1 SV2B piR-34822-114 lnc-SV2B-4 SLCO3A1
GH15J091116 Enhancer 0.9 Ensembl ENCODE 46.3 +17.4 17362 1.5 SP1 ZNF143 RELA POLR2A TCF12 IKZF2 TRIM22 PKNOX1 EED ARID3A SV2B lnc-SV2B-4 piR-34822-114 SLCO3A1
GH15J091142 Enhancer 0.6 Ensembl 14.2 +42.8 42802 0.4 CTCF FOXA1 RAD21 TRIM22 CTBP1 ZNF444 SMC3 ZNF217 MAFG CUX1 SV2B lnc-SV2B-4 piR-34822-114 SLCO3A1
GH15J091107 Enhancer 0.4 FANTOM5 22.2 +7.6 7637 0.2 ZNF781 ZNF697 RF00017-1901 SV2B ENSG00000271396 ENSG00000270322 ENSG00000285661 SLCO3A1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SV2B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SV2B

Top Transcription factor binding sites by QIAGEN in the SV2B gene promoter:
  • AML1a
  • Cart-1
  • CUTL1
  • FOXI1
  • HFH-3
  • LCR-F1
  • POU6F1 (c2)
  • PPAR-alpha
  • RSRFC4
  • STAT3

Genomic Locations for SV2B Gene

Genomic Locations for SV2B Gene
chr15:91,099,588-91,302,565
(GRCh38/hg38)
Size:
202,978 bases
Orientation:
Plus strand
chr15:91,643,180-91,844,539
(GRCh37/hg19)
Size:
201,360 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).
    • (Microbial infection) Interacts with C.botulinum neurotoxin type A2 (BoNT/A, botA) (PubMed:29649119). Interaction is improved by glycosylation of SV2 (PubMed:29649119).
    SequenceCaution:
    • Sequence=BAA34455.2; Type=Erroneous initiation; Note=Extended N-terminus.; 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

  • Abcam antibodies for SV2B
  • Boster Bio Antibodies for SV2B
  • Santa Cruz Biotechnology (SCBT) Antibodies for SV2B

No data available for DME Specific Peptides for SV2B Gene

Domains & Families for SV2B Gene

Gene Families for SV2B Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for SV2B Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ50759, highly similar to Synaptic vesicle glycoprotein 2B (B4DH30_HUMAN)
  • Synaptic vesicle glycoprotein 2B (SV2B_HUMAN)

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

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.
UniProtKB/Swiss-Prot Function:
(Microbial infection) Receptor for the C.botulinum neurotoxin type A2 (BoNT/A, botA); glycosylation is not essential but enhances the interaction (PubMed:29649119). Probably also serves as a receptor for the closely related C.botulinum neurotoxin type A1.

Phenotypes From GWAS Catalog for SV2B Gene

Gene Ontology (GO) - Molecular Function for SV2B Gene

GO ID Qualified GO term Evidence PubMed IDs
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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SV2B

Clone Products

  • Addgene plasmids for SV2B

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
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1

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 21873635
genes like me logo Genes that share ontologies with SV2B: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SV2B Gene

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:0006836 neurotransmitter transport IEA --
GO:0007268 chemical synaptic transmission 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 6556
genes like me logo Genes that share compounds with SV2B: view

Transcripts for SV2B Gene

mRNA/cDNA for SV2B Gene

11 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SV2B

Clone Products

  • Addgene plasmids for SV2B

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

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 and MOPED for SV2B Gene



Protein tissue co-expression partners for SV2B Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SV2B

SOURCE GeneReport for Unigene cluster for SV2B Gene:

Hs.21754

Evidence on tissue expression from TISSUES for SV2B Gene

  • Nervous system(4.9)
  • Eye(3.3)
  • Muscle(2)
genes like me logo Genes that share expression patterns with SV2B: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 31
  • 100 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia SV2B 30 31
  • 91.9 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SV2B 30 31
  • 90.78 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Sv2b 30
  • 89.85 (n)
Mouse
(Mus musculus)
Mammalia Sv2b 30 17 31
  • 89.6 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SV2B 31
  • 82 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SV2B 31
  • 82 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SV2B 30 31
  • 78.25 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SV2B 31
  • 77 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia sv2b 30
  • 71.96 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC101883740 30
  • 66.27 (n)
SV2B (2 of 3) 31
  • 63 (a)
OneToMany
sv2bb 31
  • 63 (a)
OneToMany
sv2ba 31
  • 59 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG3168 31 32
  • 27 (a)
ManyToMany
CG31106 31
  • 23 (a)
ManyToMany
CG31272 31
  • 22 (a)
ManyToMany
CG3690 31
  • 22 (a)
ManyToMany
CG33233 31
  • 20 (a)
ManyToMany
CG15221 31
  • 20 (a)
ManyToMany
CG14691 31
  • 20 (a)
ManyToMany
CG31103 31
  • 20 (a)
ManyToMany
CG12783 31
  • 19 (a)
ManyToMany
CG33234 31
  • 18 (a)
ManyToMany
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAPB1E7.08c 30
  • 41.05 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 29 (a)
OneToMany
Species where no ortholog for SV2B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SV2B: view image

Paralogs for SV2B Gene

Paralogs for SV2B Gene

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

  • SV2B_HUMAN
genes like me logo Genes that share paralogs with SV2B: view

Variants for SV2B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SV2B Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
rs193920952 Uncertain Significance: Malignant tumor of prostate 91,284,050(+) C/T MISSENSE_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for SV2B Gene

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

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

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)

Additional Variant Information for SV2B Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for SV2B Gene

MalaCards: The human disease database

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

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

Additional Disease Information for SV2B

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 research : an international journal for rapid publication of reports on genes and genomes 1998) 2 3 4
  2. 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 SD … DREAM investigators (Diabetes care 2010) 3 41
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  4. No major role of common SV2A variation for predisposition or levetiracetam response in epilepsy. (PMID: 18977120) Lynch JM … Sisodiya SM (Epilepsy research 2009) 3 41
  5. Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum. (PMID: 19043545) Gieger C … Suhre K (PLoS genetics 2008) 3 41

Products for SV2B Gene

Sources for SV2B Gene