AutismKB 2.0

Annotation Details for SLC6A12


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Basic Information Top
Gene Symbol:SLC6A12 ( BGT-1,BGT1,FLJ38727 )
Gene Full Name: solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12
Band: 12p13.33
Quick LinksEntrez ID:6539; OMIM: 603080; Uniprot ID:S6A12_HUMAN; ENSEMBL ID: ENSG00000111181; HGNC ID: 11045
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005886TAS-plasma membrane-
GO:0005887IBA-integral component of plasma membrane-
GO:0016021TAS-integral component of membrane7861179
GO ID Evidence Qualifier GO_term References
GO:0005215IBA-transporter activity-
GO:0005328IEA-neurotransmitter:sodium symporter activity-
GO:0005332IEA-gamma-aminobutyric acid:sodium symporter activity-
GO:0005515IPI-protein binding21525870
GO:0015171TAS-amino acid transmembrane transporter activity-
GO ID Evidence Qualifier GO_term References
GO:0003333IEA-amino acid transmembrane transport-
GO:0006810TAS-transport7861179
GO:0006836IEA-neurotransmitter transport-
GO:0006865TAS-amino acid transport-
GO:0015812IEA-gamma-aminobutyric acid transport-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:95628
  • Data Attributes: MGI curated and HomoloGene calculated
No data
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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