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

Gene ID: 9899, updated on 11-Jun-2021

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
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
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Genomic context

See SV2B in Genome Data Viewer
Location:
15q26.1
Exon count:
19
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (91099588..91302565)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (91642818..91845795)

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 Sharpr-MPRA regulatory region 12031 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum.
GeneReviews: Not available
Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment.
GeneReviews: Not available

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

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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
    5537..207845
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001167580.3NP_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
    Consensus CDS
    CCDS53972.1
    UniProtKB/Swiss-Prot
    Q7L1I2
    Related
    ENSP00000443243.2, ENST00000545111.6
    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_001323032.3NP_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, ENST00000394232.6
    Conserved Domains (1) summary
    cl26863
    Location:8683
    Sugar_tr; Sugar (and other) transporter
  4. NM_001323033.3NP_001309962.1  synaptic vesicle glycoprotein 2B isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC123784, AC127520
  5. NM_001323034.3NP_001309963.1  synaptic vesicle glycoprotein 2B isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC123784, AC127520
  6. NM_001323036.3NP_001309965.1  synaptic vesicle glycoprotein 2B isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC123784, AC127520
  7. NM_001323037.3NP_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_001323038.3NP_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_001323039.3NP_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_001323040.3NP_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_014848.7NP_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, ENST00000557410.5
    Conserved Domains (1) summary
    cl26863
    Location:8683
    Sugar_tr; Sugar (and other) transporter

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 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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