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    SV2A synaptic vesicle glycoprotein 2A [ Homo sapiens (human) ]

    Gene ID: 9900, updated on 10-Dec-2024

    Summary

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    Official Symbol
    SV2Aprovided by HGNC
    Official Full Name
    synaptic vesicle glycoprotein 2Aprovided by HGNC
    Primary source
    HGNC:HGNC:20566
    See related
    Ensembl:ENSG00000159164 MIM:185860; AllianceGenome:HGNC:20566
    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
    SV2; DEE113; SLC22B1
    Summary
    The protein encoded by this gene is one of three related synaptic vesicle proteins. The encoded protein may interact with synaptotagmin to enhance low frequency neurotransmission in quiescent neurons. [provided by RefSeq, Jun 2016]
    Expression
    Biased expression in brain (RPKM 68.4), adrenal (RPKM 5.1) and 1 other tissue See more
    Orthologs
    mouse all
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    Genomic context

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    See SV2A in Genome Data Viewer
    Location:
    1q21.2
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (149903318..149917844, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (149027459..149041985, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (149874870..149889396, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904412 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1664 Neighboring gene bolA family member 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:149881729-149882230 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:149882231-149882730 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1290 Neighboring gene splicing factor 3b subunit 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1665 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1666 Neighboring gene myotubularin related protein 11 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:149908038-149908562

    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. Reduced synaptic vesicle protein 2A binding in temporal lobe epilepsy: A [(11) C]UCB-J positron emission tomography study. Finnema SJ, et al. Epilepsia, 2020 Oct. PMID 32944949
    2. Exploring the interaction of SV2A with racetams using homology modelling, molecular dynamics and site-directed mutagenesis. Lee J, et al. PLoS One, 2015. PMID 25692762, Free PMC Article
    3. The human synaptic vesicle protein, SV2A, functions as a galactose transporter in Saccharomyces cerevisiae. Madeo M, et al. J Biol Chem, 2014 Nov 28. PMID 25326386, Free PMC Article
    4. Synaptic vesicle glycoprotein 2 A in serum is an ideal biomarker for early diagnosis of Alzheimer's disease. Wang X, et al. Alzheimers Res Ther, 2024 Apr 13. PMID 38615037, Free PMC Article
    5. Botulinum neurotoxin type A inhibits synaptic vesicle 2 expression in breast cancer cell lines. Bandala C, et al. Int J Clin Exp Pathol, 2015. PMID 26339411, Free PMC Article

    See all (71) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Biallelic variants in the synaptic vesicle glycoprotein 2 A are associated with epileptic encephalopathy.
      Title: Biallelic variants in the synaptic vesicle glycoprotein 2 A are associated with epileptic encephalopathy.
    2. Reductions in synaptic marker SV2A in early-course Schizophrenia.
      Title: Reductions in synaptic marker SV2A in early-course Schizophrenia.
    3. Loss of SV2A promotes human neural stem cell apoptosis via p53 signaling.
      Title: Loss of SV2A promotes human neural stem cell apoptosis via p53 signaling.
    4. Broadening the phenotypic spectrum of the presumably epilepsy-related SV2A gene variants.
      Title: Broadening the phenotypic spectrum of the presumably epilepsy-related SV2A gene variants.
    5. Validation of SV2A-Targeted PET Imaging for Noninvasive Assessment of Neuroendocrine Differentiation in Prostate Cancer.
      Title: Validation of SV2A-Targeted PET Imaging for Noninvasive Assessment of Neuroendocrine Differentiation in Prostate Cancer.
    6. Differentiation of two human neuroblastoma cell lines alters SV2 expression patterns.
      Title: Differentiation of two human neuroblastoma cell lines alters SV2 expression patterns.
    7. In vivo measurement of widespread synaptic loss in Alzheimer's disease with SV2A PET.
      Title: In vivo measurement of widespread synaptic loss in Alzheimer's disease with SV2A PET.
    8. Reduced synaptic vesicle protein 2A binding in temporal lobe epilepsy: A [(11) C]UCB-J positron emission tomography study.
      Title: Reduced synaptic vesicle protein 2A binding in temporal lobe epilepsy: A [(11) C]UCB-J positron emission tomography study.
    9. Expression of SV2A in brain tissue predicts adverse events following levetiracetam in patients with brain tumor-related epilepsy.
      Title: Synaptic vesicle protein 2A tumoral expression predicts levetiracetam adverse events.
    10. SV2 was highly expressed in neuroblastoma (NB) and can thus be useful marker in NB diagnostics. VMAT1 and VMAT2 were also expressed in NB but similar to syn less reliable as tumor markers.
      Title: Synaptic Vesicle Protein 2 and Vesicular Monoamine Transporter 1 and 2 Are Expressed in Neuroblastoma.
    Submit: New GeneRIF Correction See all GeneRIFs (27)

    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

    Associated conditions

    Description Tests
    Developmental and epileptic encephalopathy 113
    MedGen: C5935597 OMIM: 620772 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Many sequence variants affecting diversity of adult human height.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
    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

    • KIAA0736

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein kinase binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables transmembrane transporter activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in intracellular calcium ion homeostasis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of gamma-aminobutyric acid secretion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in synaptic vesicle priming IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in GABA-ergic synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cell-cell junction IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in dendrite IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		  
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in neuromuscular junction IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in neuron projection IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in presynaptic active zone IEA
    Inferred from Electronic Annotation
    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 2A
    Names
    solute carrier family 22 member B1

    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_050966.1 RefSeqGene

      Range
      5039..19565
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001278719.2 → NP_001265648.1  synaptic vesicle glycoprotein 2A isoform 2

      See identical proteins and their annotated locations for NP_001265648.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate segment in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AB018279, BC034038, DC305069
      UniProtKB/TrEMBL
      B4E000
      Conserved Domains (1) summary
      cd06174
      Location:43 → 183
      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_001328674.2 → NP_001315603.1  synaptic vesicle glycoprotein 2A isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 3, and 4 all encode the same isoform (1).
      Source sequence(s)
      AC239868
      Consensus CDS
      CCDS940.1
      UniProtKB/Swiss-Prot
      D3DUZ7, O94841, Q5QNX8, Q7L0J3, Q7Z3L6, Q8NBJ6, Q9BVZ9
      UniProtKB/TrEMBL
      A8K6Q3
      Conserved Domains (1) summary
      TIGR01299
      Location:1 → 742
      synapt_SV2; synaptic vesicle protein SV2

    3. NM_001328675.2 → NP_001315604.1  synaptic vesicle glycoprotein 2A isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1, 3, and 4 all encode the same isoform (1).
      Source sequence(s)
      AC239868
      Consensus CDS
      CCDS940.1
      UniProtKB/Swiss-Prot
      D3DUZ7, O94841, Q5QNX8, Q7L0J3, Q7Z3L6, Q8NBJ6, Q9BVZ9
      UniProtKB/TrEMBL
      A8K6Q3
      Conserved Domains (1) summary
      TIGR01299
      Location:1 → 742
      synapt_SV2; synaptic vesicle protein SV2

    4. NM_014849.5 → NP_055664.3  synaptic vesicle glycoprotein 2A isoform 1

      See identical proteins and their annotated locations for NP_055664.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Variants 1, 3, and 4 all encode the same isoform (1).
      Source sequence(s)
      AB018279, BC034038
      Consensus CDS
      CCDS940.1
      UniProtKB/Swiss-Prot
      D3DUZ7, O94841, Q5QNX8, Q7L0J3, Q7Z3L6, Q8NBJ6, Q9BVZ9
      UniProtKB/TrEMBL
      A8K6Q3
      Related
      ENSP00000358142.3, ENST00000369146.8
      Conserved Domains (1) summary
      TIGR01299
      Location:1 → 742
      synapt_SV2; synaptic vesicle protein SV2

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      149903318..149917844 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      149027459..149041985 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7L0J3.1 GenPept UniProtKB/Swiss-Prot:Q7L0J3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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