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

Gene ID: 9899, updated on 5-Mar-2024

Summary

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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; AllianceGenome:HGNC:16874
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
SLC22B2; 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

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Location:
15q26.1
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (91099588..91302565)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (88860310..89063343)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (91642818..91845795)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:91586547-91587048 Neighboring gene VPS33B divergent transcript Neighboring gene golgin A2 pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:91642723-91643264 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6838 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:91653317-91653843 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:91653844-91654369 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:91656268-91656428 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10108 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10109 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr15:91698560-91699759 Neighboring gene uncharacterized LOC105370972 Neighboring gene Sharpr-MPRA regulatory region 12031 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr15:91885743-91886942 Neighboring gene uncharacterized LOC107984778 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10110 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:92042895-92043798 Neighboring gene cervical cancer-associated transcript 37 Neighboring gene Sharpr-MPRA regulatory region 1362 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:92170550-92171050 Neighboring gene uncharacterized LOC105370973

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Bioinformatics analysis of potential core genes for glioblastoma. Zhang Y, et al. Biosci Rep, 2020 Jul 31. PMID 32667033, Free PMC Article
  2. Differentiation of two human neuroblastoma cell lines alters SV2 expression patterns. Lekholm E, et al. Cell Mol Biol Lett, 2021 Feb 15. PMID 33588752, Free PMC Article
  3. Expression pattern of synaptic vesicle protein 2 (SV2) isoforms in patients with temporal lobe epilepsy and hippocampal sclerosis. Crèvecoeur J, et al. Neuropathol Appl Neurobiol, 2014 Feb. PMID 23617838
  4. No major role of common SV2A variation for predisposition or levetiracetam response in epilepsy. Lynch JM, et al. Epilepsy Res, 2009 Jan. PMID 18977120
  5. Brain contains two forms of synaptic vesicle protein 2. Bajjalieh SM, et al. Proc Natl Acad Sci U S A, 1993 Mar 15. PMID 7681585, Free PMC Article

See all (28) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Differentiation of two human neuroblastoma cell lines alters SV2 expression patterns.
    Title: Differentiation of two human neuroblastoma cell lines alters SV2 expression patterns.
  2. Bioinformatics analysis of potential core genes for glioblastoma.
    Title: Bioinformatics analysis of potential core genes for glioblastoma.
  3. In classical mesial temporal sclerosis 1A, the expression of SV2 isoforms is altered with a marked decrease of SV2B paralleling synaptic loss.
    Title: Expression pattern of synaptic vesicle protein 2 (SV2) isoforms in patients with temporal lobe epilepsy and hippocampal sclerosis.
  4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  5. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
  6. Synaptic vesicle protein 2 binds adenine nucleotides
    Title: Synaptic vesicle protein 2 binds adenine nucleotides.
  7. Observational study of gene-disease association. (HuGE Navigator)
    Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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 regulation of presynaptic cytosolic calcium ion concentration IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of synaptic vesicle exocytosis 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
  
located_in membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
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
  
located_in synaptic vesicle membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
synaptic vesicle glycoprotein 2B
Names
solute carrier family 22 member B2
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_001167580.3 → NP_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:1 → 147
    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_001323031.2 → NP_001309960.1  synaptic vesicle glycoprotein 2B isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC123784, AC127520
    Consensus CDS
    CCDS10370.1
    UniProtKB/Swiss-Prot
    B4DH30, C6G489, O94840, Q6IAR8, Q7L1I2
    Related
    ENSP00000332818.4, ENST00000330276.4
    Conserved Domains (1) summary
    cl26863
    Location:8 → 683
    Sugar_tr; Sugar (and other) transporter

  3. NM_001323032.3 → NP_001309961.1  synaptic vesicle glycoprotein 2B isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC123784, AC127520
    Consensus CDS
    CCDS10370.1
    UniProtKB/Swiss-Prot
    B4DH30, C6G489, O94840, Q6IAR8, Q7L1I2
    Related
    ENSP00000377779.1, ENST00000394232.6
    Conserved Domains (1) summary
    cl26863
    Location:8 → 683
    Sugar_tr; Sugar (and other) transporter

  4. NM_001323033.3 → NP_001309962.1  synaptic vesicle glycoprotein 2B isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC123784, AC127520

  5. NM_001323034.3 → NP_001309963.1  synaptic vesicle glycoprotein 2B isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC123784, AC127520

  6. NM_001323036.3 → NP_001309965.1  synaptic vesicle glycoprotein 2B isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC123784, AC127520

  7. NM_001323037.3 → NP_001309966.1  synaptic vesicle glycoprotein 2B isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC123784, AC127520
    Consensus CDS
    CCDS10370.1
    UniProtKB/Swiss-Prot
    B4DH30, C6G489, O94840, Q6IAR8, Q7L1I2
    Conserved Domains (1) summary
    cl26863
    Location:8 → 683
    Sugar_tr; Sugar (and other) transporter

  8. NM_001323038.3 → NP_001309967.1  synaptic vesicle glycoprotein 2B isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC123784, AC127520
    Consensus CDS
    CCDS10370.1
    UniProtKB/Swiss-Prot
    B4DH30, C6G489, O94840, Q6IAR8, Q7L1I2
    Conserved Domains (1) summary
    cl26863
    Location:8 → 683
    Sugar_tr; Sugar (and other) transporter

  9. NM_001323039.3 → NP_001309968.1  synaptic vesicle glycoprotein 2B isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC123784, AC127520
    Consensus CDS
    CCDS10370.1
    UniProtKB/Swiss-Prot
    B4DH30, C6G489, O94840, Q6IAR8, Q7L1I2
    Conserved Domains (1) summary
    cl26863
    Location:8 → 683
    Sugar_tr; Sugar (and other) transporter

  10. NM_001323040.3 → NP_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:1 → 147
    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_014848.7 → NP_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
    B4DH30, C6G489, O94840, Q6IAR8, Q7L1I2
    Related
    ENSP00000450992.1, ENST00000557410.5
    Conserved Domains (1) summary
    cl26863
    Location:8 → 683
    Sugar_tr; Sugar (and other) transporter

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_047433392.1 → XP_047289348.1  synaptic vesicle glycoprotein 2B isoform X1

    UniProtKB/Swiss-Prot
    B4DH30, C6G489, O94840, Q6IAR8, Q7L1I2

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

    UniProtKB/Swiss-Prot
    B4DH30, C6G489, O94840, Q6IAR8, Q7L1I2
    Conserved Domains (1) summary
    cl26863
    Location:8 → 683
    Sugar_tr; Sugar (and other) transporter

  3. XM_017022761.2 → XP_016878250.1  synaptic vesicle glycoprotein 2B isoform X1

    UniProtKB/Swiss-Prot
    B4DH30, C6G489, O94840, Q6IAR8, Q7L1I2
    Conserved Domains (1) summary
    cl26863
    Location:8 → 683
    Sugar_tr; Sugar (and other) transporter

  4. XM_005254998.4 → XP_005255055.1  synaptic vesicle glycoprotein 2B isoform X1

    See identical proteins and their annotated locations for XP_005255055.1

    UniProtKB/Swiss-Prot
    B4DH30, C6G489, O94840, Q6IAR8, Q7L1I2
    Conserved Domains (1) summary
    cl26863
    Location:8 → 683
    Sugar_tr; Sugar (and other) transporter

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    88860310..89063343
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054379296.1 → XP_054235271.1  synaptic vesicle glycoprotein 2B isoform X1

    UniProtKB/Swiss-Prot
    B4DH30, C6G489, O94840, Q6IAR8, Q7L1I2

  2. XM_054379295.1 → XP_054235270.1  synaptic vesicle glycoprotein 2B isoform X1

    UniProtKB/Swiss-Prot
    B4DH30, C6G489, O94840, Q6IAR8, Q7L1I2

  3. XM_054379294.1 → XP_054235269.1  synaptic vesicle glycoprotein 2B isoform X1

    UniProtKB/Swiss-Prot
    B4DH30, C6G489, O94840, Q6IAR8, Q7L1I2

  4. XM_054379293.1 → XP_054235268.1  synaptic vesicle glycoprotein 2B isoform X1

    UniProtKB/Swiss-Prot
    B4DH30, C6G489, O94840, Q6IAR8, Q7L1I2

  5. XM_054379292.1 → XP_054235267.1  synaptic vesicle glycoprotein 2B isoform X1

    UniProtKB/Swiss-Prot
    B4DH30, C6G489, O94840, Q6IAR8, Q7L1I2
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q7L1I2.1 GenPept UniProtKB/Swiss-Prot:Q7L1I2

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