Atlas of Genetics and Cytogenetics in Oncology and Haematology


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KCNJ6 (potassium voltage-gated channel subfamily J member 6)

Identity

Alias_namesKCNJ7
potassium inwardly-rectifying channel
Alias_symbol (synonym)Kir3.2
GIRK2
KATP2
BIR1
hiGIRK2
Other aliasGIRK-2
KATP-2
KIR3.2
KPLBS
HGNC (Hugo) KCNJ6
LocusID (NCBI) 3763
Atlas_Id 45915
Location 21q22.13  [Link to chromosome band 21q22]
Location_base_pair Starts at 37624223 and ends at 37916438 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ERG (21q22.2) / KCNJ6 (21q22.13)KCNJ6 (21q22.13) / PLCL1 (2q33.1)MLLT10 (10p12.31) / KCNJ6 (21q22.13)
SIM2 (21q22.13) / KCNJ6 (21q22.13)SLC25A51 (9p13.2) / KCNJ6 (21q22.13)ERG 21q22.2 / KCNJ6 21q22.13
MLLT10 10p12.31 / KCNJ6 21q22.13SIM2 21q22.13 / KCNJ6 21q22.13

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)KCNJ6   6267
Cards
Entrez_Gene (NCBI)KCNJ6  3763  potassium voltage-gated channel subfamily J member 6
AliasesBIR1; GIRK-2; GIRK2; KATP-2; 
KATP2; KCNJ7; KIR3.2; KPLBS; hiGIRK2
GeneCards (Weizmann)KCNJ6
Ensembl hg19 (Hinxton)ENSG00000157542 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000157542 [Gene_View]  chr21:37624223-37916438 [Contig_View]  KCNJ6 [Vega]
ICGC DataPortalENSG00000157542
TCGA cBioPortalKCNJ6
AceView (NCBI)KCNJ6
Genatlas (Paris)KCNJ6
WikiGenes3763
SOURCE (Princeton)KCNJ6
Genetics Home Reference (NIH)KCNJ6
Genomic and cartography
GoldenPath hg38 (UCSC)KCNJ6  -     chr21:37624223-37916438 -  21q22.13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KCNJ6  -     21q22.13   [Description]    (hg19-Feb_2009)
EnsemblKCNJ6 - 21q22.13 [CytoView hg19]  KCNJ6 - 21q22.13 [CytoView hg38]
Mapping of homologs : NCBIKCNJ6 [Mapview hg19]  KCNJ6 [Mapview hg38]
OMIM600877   614098   
Gene and transcription
Genbank (Entrez)AJ001894 AK313997 AW015013 BC101547 BF110130
RefSeq transcript (Entrez)NM_002240
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KCNJ6
Cluster EST : UnigeneHs.741904 [ NCBI ]
CGAP (NCI)Hs.741904
Alternative Splicing GalleryENSG00000157542
Gene ExpressionKCNJ6 [ NCBI-GEO ]   KCNJ6 [ EBI - ARRAY_EXPRESS ]   KCNJ6 [ SEEK ]   KCNJ6 [ MEM ]
Gene Expression Viewer (FireBrowse)KCNJ6 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3763
GTEX Portal (Tissue expression)KCNJ6
Protein : pattern, domain, 3D structure
UniProt/SwissProtP48051   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP48051  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP48051
Splice isoforms : SwissVarP48051
PhosPhoSitePlusP48051
Domains : Interpro (EBI)Ig_E-set    K_chnl_inward-rec_Kir    K_chnl_inward-rec_Kir3.2    K_chnl_inward-rec_Kir_cyto   
Domain families : Pfam (Sanger)IRK (PF01007)   
Domain families : Pfam (NCBI)pfam01007   
Conserved Domain (NCBI)KCNJ6
DMDM Disease mutations3763
Blocks (Seattle)KCNJ6
SuperfamilyP48051
Human Protein AtlasENSG00000157542
Peptide AtlasP48051
HPRD02929
IPIIPI00007627   
Protein Interaction databases
DIP (DOE-UCLA)P48051
IntAct (EBI)P48051
FunCoupENSG00000157542
BioGRIDKCNJ6
STRING (EMBL)KCNJ6
ZODIACKCNJ6
Ontologies - Pathways
QuickGOP48051
Ontology : AmiGOinward rectifier potassium channel activity  protein binding  Golgi apparatus  plasma membrane  plasma membrane  potassium ion transport  voltage-gated potassium channel complex  potassium ion import  G-protein activated inward rectifier potassium channel activity  regulation of ion transmembrane transport  
Ontology : EGO-EBIinward rectifier potassium channel activity  protein binding  Golgi apparatus  plasma membrane  plasma membrane  potassium ion transport  voltage-gated potassium channel complex  potassium ion import  G-protein activated inward rectifier potassium channel activity  regulation of ion transmembrane transport  
Pathways : KEGG   
NDEx NetworkKCNJ6
Atlas of Cancer Signalling NetworkKCNJ6
Wikipedia pathwaysKCNJ6
Orthology - Evolution
OrthoDB3763
GeneTree (enSembl)ENSG00000157542
Phylogenetic Trees/Animal Genes : TreeFamKCNJ6
HOVERGENP48051
HOGENOMP48051
Homologs : HomoloGeneKCNJ6
Homology/Alignments : Family Browser (UCSC)KCNJ6
Gene fusions - Rearrangements
Fusion : MitelmanERG/KCNJ6 [21q22.2/21q22.13]  [t(21;21)(q22;q22)]  
Fusion : MitelmanMLLT10/KCNJ6 [10p12.31/21q22.13]  [t(10;21)(p12;q22)]  
Fusion : MitelmanSIM2/KCNJ6 [21q22.13/21q22.13]  [t(21;21)(q22;q22)]  
Fusion: TCGAERG 21q22.2 KCNJ6 21q22.13 PRAD
Fusion: TCGAMLLT10 10p12.31 KCNJ6 21q22.13 LUAD
Fusion: TCGASIM2 21q22.13 KCNJ6 21q22.13 LGG
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKCNJ6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KCNJ6
dbVarKCNJ6
ClinVarKCNJ6
1000_GenomesKCNJ6 
Exome Variant ServerKCNJ6
ExAC (Exome Aggregation Consortium)KCNJ6 (select the gene name)
Genetic variants : HAPMAP3763
Genomic Variants (DGV)KCNJ6 [DGVbeta]
DECIPHERKCNJ6 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKCNJ6 
Mutations
ICGC Data PortalKCNJ6 
TCGA Data PortalKCNJ6 
Broad Tumor PortalKCNJ6
OASIS PortalKCNJ6 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKCNJ6  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKCNJ6
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch KCNJ6
DgiDB (Drug Gene Interaction Database)KCNJ6
DoCM (Curated mutations)KCNJ6 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KCNJ6 (select a term)
intoGenKCNJ6
Cancer3DKCNJ6(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600877    614098   
Orphanet23306   
MedgenKCNJ6
Genetic Testing Registry KCNJ6
NextProtP48051 [Medical]
TSGene3763
GENETestsKCNJ6
Target ValidationKCNJ6
Huge Navigator KCNJ6 [HugePedia]
snp3D : Map Gene to Disease3763
BioCentury BCIQKCNJ6
ClinGenKCNJ6
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3763
Chemical/Pharm GKB GenePA30049
Clinical trialKCNJ6
Miscellaneous
canSAR (ICR)KCNJ6 (select the gene name)
Probes
Litterature
PubMed56 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKCNJ6
EVEXKCNJ6
GoPubMedKCNJ6
iHOPKCNJ6
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jun 7 12:39:16 CEST 2017

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