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

    Gene ID: 9899, updated on 27-Nov-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
    mouse all
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    Genomic context

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    See SV2B in Genome Data Viewer
    Location:
    15q26.1
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (91099588..91302565)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (88860310..89063343)
    RS_2024_09 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. No major role of common SV2A variation for predisposition or levetiracetam response in epilepsy. Lynch JM, et al. Epilepsy Res, 2009 Jan. PMID 18977120
    3. 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
    4. 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
    5. 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

    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)

    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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    NEW Try the new Transcript table

    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_2024_08

    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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