AutismKB 2.0

Annotation Details for SLC12A1


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Basic Information Top
Gene Symbol:SLC12A1 ( BSC1,MGC48843,NKCC2 )
Gene Full Name: solute carrier family 12 (sodium/potassium/chloride transporters), member 1
Band: 15q21.1
Quick LinksEntrez ID:6557; OMIM: 600839; Uniprot ID:S12A1_HUMAN; ENSEMBL ID: ENSG00000074803; HGNC ID: 10910
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005886TAS-plasma membrane-
GO:0016020TAS-membrane7929272
GO:0016021IEA-integral component of membrane-
GO:0016324IBA-apical plasma membrane-
GO:0070062IDA-extracellular exosome15326289
GO ID Evidence Qualifier GO_term References
GO:0008511TAS-sodium:potassium:chloride symporter activity-
GO ID Evidence Qualifier GO_term References
GO:0006810TAS-transport8640224
GO:0006811TAS-ion transport-
GO:0006813IEA-potassium ion transport-
GO:0006814IEA-sodium ion transport-
GO:0034220ISS-ion transmembrane transport-
GO:1902476IEA-chloride transmembrane transport-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:103150
  • Data Attributes: MGI curated and HomoloGene calculated
No data
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  (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