AutismKB 2.0

Annotation Details for KCNJ6


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:KCNJ6 ( BIR1,GIRK-2,GIRK2,KATP-2,KATP2,KCNJ7,KIR3.2,MGC126596,hiGIRK2 )
Gene Full Name: potassium inwardly-rectifying channel, subfamily J, member 6
Band: 21q22.13
Quick LinksEntrez ID:3763; OMIM: 600877; Uniprot ID:IRK6_HUMAN; ENSEMBL ID: ENSG00000157542; HGNC ID: 6267
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005794IDA-Golgi apparatus16780588
GO:0005886IDA-plasma membrane16780588
GO:0005886TAS-plasma membrane-
GO:0008076TAS-voltage-gated potassium channel complex7796919
GO ID Evidence Qualifier GO_term References
GO:0005242TAS-inward rectifier potassium channel activity7796919
GO:0005515IPI-protein binding12297500
GO:0015467TAS-G-protein activated inward rectifier potassium channel activity-
GO ID Evidence Qualifier GO_term References
GO:0006813TAS-potassium ion transport7796919
GO:0010107IBA-potassium ion import-
GO:0034765IEA-regulation of ion transmembrane transport-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
KCNJ6BIRC510996515218035 Reconstituted Complex
KCNJ6BIRC510682915218035 Reconstituted Complex
KCNJ6DLG110808310619846 Reconstituted Complex
KCNJ6DLG110996510619846 Reconstituted Complex
KCNJ6DRD210996512297500 Affinity Capture-Western
KCNJ6DRD210814712297500 Affinity Capture-Western
KCNJ9KCNJ610996510956667 12297500 Affinity Capture-Western
KCNJ9KCNJ610996710956667 12297500 Affinity Capture-Western
No data
No data
AlzGene, PDGene and SZGene Top
Gene Symbol Poly Names Gene overview in AlzGene
KCNJ6rs2070995, rs2835908 Gene overview in AlzGene
Gene Symbol Poly Names Gene overview in PDGene
KCNJ6rs1787423, rs1892683, rs3787831 Gene overview in PDGene
No data
Animal Model Top
  • MGI ID: MGI:104781
  • 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