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

Gene ID: 9900, updated on 21-Dec-2019

Summary

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
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
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

Genomic context

See SV2A in Genome Data Viewer
Location:
1q21.2
Exon count:
13
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (149903318..149917844, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (149874870..149889434, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H2A clustered histone 21 Neighboring gene bolA family member 1 Neighboring gene splicing factor 3b subunit 4 Neighboring gene myotubularin related protein 11 Neighboring gene OTU deubiquitinase 7B

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

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0736

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein kinase binding ISS
Inferred from Sequence or Structural Similarity
more info
 
transmembrane transporter activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cellular calcium ion homeostasis IEA
Inferred from Electronic Annotation
more info
 
regulation of gamma-aminobutyric acid secretion IEA
Inferred from Electronic Annotation
more info
 
synaptic vesicle priming IEA
Inferred from Electronic Annotation
more info
 
transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
GABA-ergic synapse IEA
Inferred from Electronic Annotation
more info
 
cell IEA
Inferred from Electronic Annotation
more info
 
cell-cell junction IEA
Inferred from Electronic Annotation
more info
 
dendrite IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 
glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of synaptic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
neuromuscular junction IEA
Inferred from Electronic Annotation
more info
 
neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
presynaptic active zone IEA
Inferred from Electronic Annotation
more info
 
synaptic vesicle TAS
Traceable Author Statement
more info
PubMed 
synaptic vesicle membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
synaptic vesicle membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
synaptic vesicle glycoprotein 2A

NCBI Reference Sequences (RefSeq)

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_001278719.1NP_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/Swiss-Prot
    Q7L0J3
    UniProtKB/TrEMBL
    B4E000
    Conserved Domains (1) summary
    cd06174
    Location:43183
    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_001328674.2NP_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
    Q7L0J3
    Conserved Domains (2) summary
    cd06174
    Location:170320
    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 ...
    TIGR01299
    Location:1742
    synapt_SV2; synaptic vesicle protein SV2
  3. NM_001328675.2NP_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
    Q7L0J3
    Conserved Domains (2) summary
    cd06174
    Location:170320
    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 ...
    TIGR01299
    Location:1742
    synapt_SV2; synaptic vesicle protein SV2
  4. NM_014849.5NP_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
    Q7L0J3
    Related
    ENSP00000358142.3, ENST00000369146.8
    Conserved Domains (2) summary
    cd06174
    Location:170320
    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 ...
    TIGR01299
    Location:1742
    synapt_SV2; synaptic vesicle protein SV2

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

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