AutismKB 2.0

Annotation Details for SLC12A6


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Basic Information Top
Gene Symbol:SLC12A6 ( ACCPN,DKFZp434D2135,KCC3,KCC3A,KCC3B )
Gene Full Name: solute carrier family 12 (potassium/chloride transporters), member 6
Band: 15q14
Quick LinksEntrez ID:9990; OMIM: 604878; Uniprot ID:S12A6_HUMAN; ENSEMBL ID: ENSG00000140199; HGNC ID: 10914
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005886TAS-plasma membrane-
GO:0005887IEA-integral component of plasma membrane-
GO:0016021NAS-integral component of membrane10187864
GO:0016323ISS-basolateral plasma membrane-
GO ID Evidence Qualifier GO_term References
GO:0015379IDA-potassium:chloride symporter activity10187864
GO:0015379TAS-potassium:chloride symporter activity-
GO:0022820IBA-potassium ion symporter activity-
GO ID Evidence Qualifier GO_term References
GO:0001525NAS-angiogenesis10187864
GO:0006811IDA-ion transport10187864
GO:0006811TAS-ion transport-
GO:0007268IBA-chemical synaptic transmission-
GO:0071477IDA-cellular hypotonic salinity response16048901
GO:0071805IEA-potassium ion transmembrane transport-
GO:1902476IEA-chloride transmembrane transport-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
No data
No data
Gene Symbol Poly Names Gene overview in SZGene
SLC12A6SLC12A6_IVS4+1008ins Gene overview in SZGene
Animal Model Top
  • MGI ID: MGI:2135960
  • Data Attributes: MGI curated and HomoloGene calculated
No data
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