AutismKB 2.0

Annotation Details for SV2A


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:SV2A ( KIAA0736,SV2 )
Gene Full Name: synaptic vesicle glycoprotein 2A
Band: 1q21.2
Quick LinksEntrez ID:9900; OMIM: 185860; Uniprot ID:SV2A_HUMAN; ENSEMBL ID: ENSG00000159164; HGNC ID: 20566
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005783IDA-endoplasmic reticulum-
GO:0005886TAS-plasma membrane-
GO:0005911IEA-cell-cell junction-
GO:0008021TAS-synaptic vesicle15217342
GO:0030285IEA-integral component of synaptic vesicle membrane-
GO:0030425IEA-dendrite-
GO:0030672TAS-synaptic vesicle membrane-
GO:0031594IEA-neuromuscular junction-
GO:0043025IEA-neuronal cell body-
GO:0043195IEA-terminal bouton-
GO:0048786IEA-presynaptic active zone-
GO ID Evidence Qualifier GO_term References
GO:0004872IEA-receptor activity-
GO:0019901ISS-protein kinase binding-
GO:0022857IEA-transmembrane transporter activity-
GO ID Evidence Qualifier GO_term References
GO:0006836IEA-neurotransmitter transport-
GO:0006874IEA-cellular calcium ion homeostasis-
GO:0014052IEA-regulation of gamma-aminobutyric acid secretion-
GO:0055085IEA-transmembrane transport-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1927139
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018