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

Gene ID: 9900, updated on 22-Apr-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
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Genomic context

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Location:
1q21.2
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (149903318..149917844, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (149027459..149041985, complement)
105.20220307 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. Reductions in synaptic marker SV2A in early-course Schizophrenia. Yoon JH, et al. J Psychiatr Res, 2023 May. PMID 36934603
  2. Loss of SV2A promotes human neural stem cell apoptosis via p53 signaling. Yu H, et al. Neurosci Lett, 2023 Mar 13. PMID 36780942
  3. Broadening the phenotypic spectrum of the presumably epilepsy-related SV2A gene variants. Badura-Stronka M, et al. Epilepsy Res, 2023 Feb. PMID 36758444
  4. Validation of SV2A-Targeted PET Imaging for Noninvasive Assessment of Neuroendocrine Differentiation in Prostate Cancer. Guan B, et al. Int J Mol Sci, 2021 Dec 3. PMID 34884893, Free PMC Article
  5. 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

See all (66) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Synaptic vesicle glycoprotein 2 A in serum is an ideal biomarker for early diagnosis of Alzheimer's disease.
    Title: Synaptic vesicle glycoprotein 2 A in serum is an ideal biomarker for early diagnosis of Alzheimer's disease.
  2. 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.
  3. Reductions in synaptic marker SV2A in early-course Schizophrenia.
    Title: Reductions in synaptic marker SV2A in early-course Schizophrenia.
  4. 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.
  5. 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.
  6. 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.
  7. Differentiation of two human neuroblastoma cell lines alters SV2 expression patterns.
    Title: Differentiation of two human neuroblastoma cell lines alters SV2 expression patterns.
  8. 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.
  9. 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.
  10. 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.
Submit: New GeneRIF Correction See all GeneRIFs (28)

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: CN377240 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)

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

  • 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_2023_10

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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