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SV2A (synaptic vesicle glycoprotein 2A)

Identity

Alias_symbol (synonym)SV2
KIAA0736
Other alias
HGNC (Hugo) SV2A
LocusID (NCBI) 9900
Atlas_Id 51509
Location 1q21.2  [Link to chromosome band 1q21]
Location_base_pair Starts at 149903320 and ends at 149906991 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
SV2A (1q21.2) / CACNA1B (9q34.3)SV2A (1q21.2) / DENND5A (11p15.4)SV2A (1q21.2) / LIMCH1 (4p13)
SV2A (1q21.2) / SCLY (2q37.3)SV2A (1q21.2) / SV2A (1q21.2)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)SV2A   20566
Cards
Entrez_Gene (NCBI)SV2A  9900  synaptic vesicle glycoprotein 2A
AliasesSV2
GeneCards (Weizmann)SV2A
Ensembl hg19 (Hinxton)ENSG00000159164 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000159164 [Gene_View]  chr1:149903320-149906991 [Contig_View]  SV2A [Vega]
ICGC DataPortalENSG00000159164
TCGA cBioPortalSV2A
AceView (NCBI)SV2A
Genatlas (Paris)SV2A
WikiGenes9900
SOURCE (Princeton)SV2A
Genetics Home Reference (NIH)SV2A
Genomic and cartography
GoldenPath hg38 (UCSC)SV2A  -     chr1:149903320-149906991 -  1q21.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SV2A  -     1q21.2   [Description]    (hg19-Feb_2009)
EnsemblSV2A - 1q21.2 [CytoView hg19]  SV2A - 1q21.2 [CytoView hg38]
Mapping of homologs : NCBISV2A [Mapview hg19]  SV2A [Mapview hg38]
OMIM185860   
Gene and transcription
Genbank (Entrez)AB018279 AK075480 AK291718 AK303161 AM393578
RefSeq transcript (Entrez)NM_001278719 NM_001328674 NM_001328675 NM_014849
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SV2A
Cluster EST : UnigeneHs.516153 [ NCBI ]
CGAP (NCI)Hs.516153
Alternative Splicing GalleryENSG00000159164
Gene ExpressionSV2A [ NCBI-GEO ]   SV2A [ EBI - ARRAY_EXPRESS ]   SV2A [ SEEK ]   SV2A [ MEM ]
Gene Expression Viewer (FireBrowse)SV2A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9900
GTEX Portal (Tissue expression)SV2A
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ7L0J3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ7L0J3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ7L0J3
Splice isoforms : SwissVarQ7L0J3
PhosPhoSitePlusQ7L0J3
Domaine pattern : Prosite (Expaxy)MFS (PS50850)   
Domains : Interpro (EBI)5peptide_repeat    MFS    MFS_dom    MFS_sugar_transport-like    Sugar_transporter_CS    SV2   
Domain families : Pfam (Sanger)MFS_1 (PF07690)    Pentapeptide_4 (PF13599)    Sugar_tr (PF00083)   
Domain families : Pfam (NCBI)pfam07690    pfam13599    pfam00083   
Conserved Domain (NCBI)SV2A
DMDM Disease mutations9900
Blocks (Seattle)SV2A
PDB (SRS)4V11   
PDB (PDBSum)4V11   
PDB (IMB)4V11   
PDB (RSDB)4V11   
Structural Biology KnowledgeBase4V11   
SCOP (Structural Classification of Proteins)4V11   
CATH (Classification of proteins structures)4V11   
SuperfamilyQ7L0J3
Human Protein AtlasENSG00000159164
Peptide AtlasQ7L0J3
HPRD08922
IPIIPI00644025   IPI00645484   
Protein Interaction databases
DIP (DOE-UCLA)Q7L0J3
IntAct (EBI)Q7L0J3
FunCoupENSG00000159164
BioGRIDSV2A
STRING (EMBL)SV2A
ZODIACSV2A
Ontologies - Pathways
QuickGOQ7L0J3
Ontology : AmiGOreceptor activity  endoplasmic reticulum  plasma membrane  cell-cell junction  neurotransmitter transport  cellular calcium ion homeostasis  synaptic vesicle  regulation of gamma-aminobutyric acid secretion  protein kinase binding  transmembrane transporter activity  integral component of synaptic vesicle membrane  dendrite  synaptic vesicle membrane  neuromuscular junction  neuronal cell body  terminal bouton  presynaptic active zone  transmembrane transport  
Ontology : EGO-EBIreceptor activity  endoplasmic reticulum  plasma membrane  cell-cell junction  neurotransmitter transport  cellular calcium ion homeostasis  synaptic vesicle  regulation of gamma-aminobutyric acid secretion  protein kinase binding  transmembrane transporter activity  integral component of synaptic vesicle membrane  dendrite  synaptic vesicle membrane  neuromuscular junction  neuronal cell body  terminal bouton  presynaptic active zone  transmembrane transport  
Pathways : KEGGECM-receptor interaction   
NDEx NetworkSV2A
Atlas of Cancer Signalling NetworkSV2A
Wikipedia pathwaysSV2A
Orthology - Evolution
OrthoDB9900
GeneTree (enSembl)ENSG00000159164
Phylogenetic Trees/Animal Genes : TreeFamSV2A
HOVERGENQ7L0J3
HOGENOMQ7L0J3
Homologs : HomoloGeneSV2A
Homology/Alignments : Family Browser (UCSC)SV2A
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSV2A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SV2A
dbVarSV2A
ClinVarSV2A
1000_GenomesSV2A 
Exome Variant ServerSV2A
ExAC (Exome Aggregation Consortium)SV2A (select the gene name)
Genetic variants : HAPMAP9900
Genomic Variants (DGV)SV2A [DGVbeta]
DECIPHERSV2A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSV2A 
Mutations
ICGC Data PortalSV2A 
TCGA Data PortalSV2A 
Broad Tumor PortalSV2A
OASIS PortalSV2A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSV2A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSV2A
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SV2A
DgiDB (Drug Gene Interaction Database)SV2A
DoCM (Curated mutations)SV2A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SV2A (select a term)
intoGenSV2A
Cancer3DSV2A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM185860   
Orphanet
MedgenSV2A
Genetic Testing Registry SV2A
NextProtQ7L0J3 [Medical]
TSGene9900
GENETestsSV2A
Target ValidationSV2A
Huge Navigator SV2A [HugePedia]
snp3D : Map Gene to Disease9900
BioCentury BCIQSV2A
ClinGenSV2A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9900
Chemical/Pharm GKB GenePA128394564
Clinical trialSV2A
Miscellaneous
canSAR (ICR)SV2A (select the gene name)
Probes
Litterature
PubMed43 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSV2A
EVEXSV2A
GoPubMedSV2A
iHOPSV2A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:58:14 CEST 2017

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