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SV2B synaptic vesicle glycoprotein 2B [ Homo sapiens (human) ]

Gene ID: 9899, updated on 2-Oct-2018

Summary

Official Symbol
SV2Bprovided by HGNC
Official Full Name
synaptic vesicle glycoprotein 2Bprovided by HGNC
Primary source
HGNC:HGNC:16874
See related
Ensembl:ENSG00000185518 MIM:185861; Vega:OTTHUMG00000149833
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HsT19680
Summary
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]
Expression
Biased expression in brain (RPKM 7.7) and fat (RPKM 1.1) See more
Orthologs

Genomic context

See SV2B in Genome Data Viewer
Location:
15q26.1
Exon count:
19
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 15 NC_000015.10 (91099588..91302565)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (91642996..91844539)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene VPS33B divergent transcript Neighboring gene VPS33B, late endosome and lysosome associated Neighboring gene golgin A2 pseudogene Neighboring gene uncharacterized LOC105370972 Neighboring gene uncharacterized LOC107984778 Neighboring gene cervical cancer-associated transcript 37 Neighboring gene uncharacterized LOC105370973

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum.
NHGRI GWA Catalog
Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment.
NHGRI GWA Catalog

Pathways from BioSystems

  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • ECM-receptor interaction, organism-specific biosystem (from KEGG)
    ECM-receptor interaction, organism-specific biosystemThe extracellular matrix (ECM) consists of a complex mixture of structural and functional macromolecules and serves an important role in tissue and organ morphogenesis and in the maintenance of cell ...
  • ECM-receptor interaction, conserved biosystem (from KEGG)
    ECM-receptor interaction, conserved biosystemThe extracellular matrix (ECM) consists of a complex mixture of structural and functional macromolecules and serves an important role in tissue and organ morphogenesis and in the maintenance of cell ...
  • Infectious disease, organism-specific biosystem (from REACTOME)
    Infectious disease, organism-specific biosystem
    Infectious disease
  • Neurotoxicity of clostridium toxins, organism-specific biosystem (from REACTOME)
    Neurotoxicity of clostridium toxins, organism-specific biosystemClostridial neurotoxins, when taken up by human neurons, block synaptic transmission by cleaving proteins required for the fusion of synaptic vesicles with the plasma membrane. They are remarkably ef...
  • Toxicity of botulinum toxin type A (BoNT/A), organism-specific biosystem (from REACTOME)
    Toxicity of botulinum toxin type A (BoNT/A), organism-specific biosystemBotulinum toxin type A (BoNT/A), a disulfide bonded heavy chain (HC) - light chain (LC) heterodimer ("dichain"), enters the gut typically as a result of consuming contaminated food (Hatheway 1995), a...
  • Toxicity of botulinum toxin type D (BoNT/D), organism-specific biosystem (from REACTOME)
    Toxicity of botulinum toxin type D (BoNT/D), organism-specific biosystemBotulinum toxin type D (BoNT/D) is only very rarely associated with human disease (Hatheway 1995) and a pathway by which it might enter the circulation from the human gut has not been described. Neve...
  • Toxicity of botulinum toxin type E (BoNT/E), organism-specific biosystem (from REACTOME)
    Toxicity of botulinum toxin type E (BoNT/E), organism-specific biosystemBotulinum toxin type E (BoNT/E), a disulfide-bonded heavy chain (HC) - light chain (LC) heterodimer (?dichain?), enters the gut typically as a result of consuming contaminated food (Hatheway 1995), a...
  • Toxicity of botulinum toxin type F (BoNT/F), organism-specific biosystem (from REACTOME)
    Toxicity of botulinum toxin type F (BoNT/F), organism-specific biosystemBotulinum toxin type F (BoNT/F) is only very rarely associated with human disease (Hatheway 1995) and a pathway by which it might enter the circulation from the human gut has not been described. Neve...
  • Uptake and actions of bacterial toxins, organism-specific biosystem (from REACTOME)
    Uptake and actions of bacterial toxins, organism-specific biosystemThe toxic effects of many bacteria on their human hosts are mediated by proteins released from the bacteria that enter human cells and disrupt critical cellular functions (Henkel et al. 2010). All of...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ30413, FLJ42732, KIAA0735

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transmembrane transporter activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
chemical synaptic transmission IEA
Inferred from Electronic Annotation
more info
 
neurotransmitter transport IEA
Inferred from Electronic Annotation
more info
 
transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
acrosomal vesicle IEA
Inferred from Electronic Annotation
more info
 
cell junction IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
synaptic vesicle ISS
Inferred from Sequence or Structural Similarity
more info
 
synaptic vesicle TAS
Traceable Author Statement
more info
PubMed 
synaptic vesicle membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
synaptic vesicle membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
synaptic vesicle glycoprotein 2B
Names
synaptic vesicle protein 2B homolog

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_051558.1 RefSeqGene

    Range
    5160..207845
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001167580.2NP_001161052.1  synaptic vesicle glycoprotein 2B isoform 2

    See identical proteins and their annotated locations for NP_001161052.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks two internal exons in the 5' region, as compared to variant 1. This results in a downstream in-frame AUG start codon and a shorter isoform (2), as compared to isoform 1.
    Source sequence(s)
    AC123784, AK294902, AL109781, HY123696
    Consensus CDS
    CCDS53972.1
    UniProtKB/Swiss-Prot
    Q7L1I2
    Related
    ENSP00000443243.2, OTTHUMP00000246710, ENST00000545111.6, OTTHUMT00000414784
    Conserved Domains (1) summary
    cd06174
    Location:1147
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
  2. NM_001323031.2NP_001309960.1  synaptic vesicle glycoprotein 2B isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC123784, AC127520
    Consensus CDS
    CCDS10370.1
    UniProtKB/Swiss-Prot
    Q7L1I2
    Conserved Domains (1) summary
    cl26863
    Location:8683
    Sugar_tr; Sugar (and other) transporter
  3. NM_001323032.2NP_001309961.1  synaptic vesicle glycoprotein 2B isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC123784, AC127520
    Consensus CDS
    CCDS10370.1
    UniProtKB/Swiss-Prot
    Q7L1I2
    Related
    ENSP00000377779.1, OTTHUMP00000194749, ENST00000394232.5, OTTHUMT00000313494
    Conserved Domains (1) summary
    cl26863
    Location:8683
    Sugar_tr; Sugar (and other) transporter
  4. NM_001323033.2NP_001309962.1  synaptic vesicle glycoprotein 2B isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC123784, AC127520
  5. NM_001323034.2NP_001309963.1  synaptic vesicle glycoprotein 2B isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC123784, AC127520
  6. NM_001323036.2NP_001309965.1  synaptic vesicle glycoprotein 2B isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC123784, AC127520
  7. NM_001323037.2NP_001309966.1  synaptic vesicle glycoprotein 2B isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC123784, AC127520
    Consensus CDS
    CCDS10370.1
    UniProtKB/Swiss-Prot
    Q7L1I2
    Conserved Domains (1) summary
    cl26863
    Location:8683
    Sugar_tr; Sugar (and other) transporter
  8. NM_001323038.2NP_001309967.1  synaptic vesicle glycoprotein 2B isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC123784, AC127520
    Consensus CDS
    CCDS10370.1
    UniProtKB/Swiss-Prot
    Q7L1I2
    Conserved Domains (1) summary
    cl26863
    Location:8683
    Sugar_tr; Sugar (and other) transporter
  9. NM_001323039.2NP_001309968.1  synaptic vesicle glycoprotein 2B isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC123784, AC127520
    Consensus CDS
    CCDS10370.1
    UniProtKB/Swiss-Prot
    Q7L1I2
    Conserved Domains (1) summary
    cl26863
    Location:8683
    Sugar_tr; Sugar (and other) transporter
  10. NM_001323040.2NP_001309969.1  synaptic vesicle glycoprotein 2B isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC123784, AC127520
    Consensus CDS
    CCDS53972.1
    UniProtKB/Swiss-Prot
    Q7L1I2
    Conserved Domains (1) summary
    cd06174
    Location:1147
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
  11. NM_014848.6NP_055663.1  synaptic vesicle glycoprotein 2B isoform 1

    See identical proteins and their annotated locations for NP_055663.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC123784, AC127520
    Consensus CDS
    CCDS10370.1
    UniProtKB/Swiss-Prot
    Q7L1I2
    Related
    ENSP00000450992.1, OTTHUMP00000246711, ENST00000557410.5, OTTHUMT00000414785
    Conserved Domains (1) summary
    cl26863
    Location:8683
    Sugar_tr; Sugar (and other) transporter

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p12 Primary Assembly

    Range
    91099588..91302565
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017022762.1XP_016878251.1  synaptic vesicle glycoprotein 2B isoform X1

    UniProtKB/Swiss-Prot
    Q7L1I2
    Conserved Domains (1) summary
    cl26863
    Location:8683
    Sugar_tr; Sugar (and other) transporter
  2. XM_017022761.1XP_016878250.1  synaptic vesicle glycoprotein 2B isoform X1

    UniProtKB/Swiss-Prot
    Q7L1I2
    Related
    ENSP00000332818.4, ENST00000330276.4
    Conserved Domains (1) summary
    cl26863
    Location:8683
    Sugar_tr; Sugar (and other) transporter
  3. XM_005254998.3XP_005255055.1  synaptic vesicle glycoprotein 2B isoform X1

    See identical proteins and their annotated locations for XP_005255055.1

    UniProtKB/Swiss-Prot
    Q7L1I2
    Conserved Domains (1) summary
    cl26863
    Location:8683
    Sugar_tr; Sugar (and other) transporter
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