AutismKB 2.0

Annotation Details for SLC12A5


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Basic Information Top
Gene Symbol:SLC12A5 ( KCC2,KIAA1176 )
Gene Full Name: solute carrier family 12 (potassium/chloride transporter), member 5
Band: 20q13.12
Quick LinksEntrez ID:57468; OMIM: 606726; Uniprot ID:S12A5_HUMAN; ENSEMBL ID: ENSG00000124140; HGNC ID: 13818
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 membrane12106695
GO:0043025IEA-neuronal cell body-
GO:0043198IEA-dendritic shaft-
GO ID Evidence Qualifier GO_term References
GO:0015108IDA-chloride transmembrane transporter activity26333769
GO:0015379IBA-potassium:chloride symporter activity-
GO:0015379NAS-potassium:chloride symporter activity12106695
GO:0015379TAS-potassium:chloride symporter activity-
GO:0022820IBA-potassium ion symporter activity-
GO ID Evidence Qualifier GO_term References
GO:0006810NAS-transport12106695
GO:0006811TAS-ion transport-
GO:0006873NAS-cellular ion homeostasis12106695
GO:0007268IBA-chemical synaptic transmission-
GO:0007612IEA-learning-
GO:0030644IDA-cellular chloride ion homeostasis26333769
GO:0035264IEA-multicellular organism growth-
GO:0040040IEA-thermosensory behavior-
GO:0042493IEA-response to drug-
GO:0060996IDA-dendritic spine development24668262
GO:0071805IEA-potassium ion transmembrane transport-
GO:1902476IEA-chloride transmembrane transport-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1862037
  • 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