Atlas of Genetics and Cytogenetics in Oncology and Haematology


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KCNJ8 (potassium voltage-gated channel subfamily J member 8)

Identity

Alias_namespotassium inwardly-rectifying channel, subfamily J, member 8
Alias_symbol (synonym)Kir6.1
Other aliasKIR6.1
uKATP-1
HGNC (Hugo) KCNJ8
LocusID (NCBI) 3764
Atlas_Id 64792
Location 12p12.1  [Link to chromosome band 12p12]
Location_base_pair Starts at 21764955 and ends at 21774821 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

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)KCNJ8   6269
Cards
Entrez_Gene (NCBI)KCNJ8  3764  potassium voltage-gated channel subfamily J member 8
AliasesKIR6.1; uKATP-1
GeneCards (Weizmann)KCNJ8
Ensembl hg19 (Hinxton)ENSG00000121361 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000121361 [Gene_View]  chr12:21764955-21774821 [Contig_View]  KCNJ8 [Vega]
ICGC DataPortalENSG00000121361
TCGA cBioPortalKCNJ8
AceView (NCBI)KCNJ8
Genatlas (Paris)KCNJ8
WikiGenes3764
SOURCE (Princeton)KCNJ8
Genetics Home Reference (NIH)KCNJ8
Genomic and cartography
GoldenPath hg38 (UCSC)KCNJ8  -     chr12:21764955-21774821 -  12p12.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KCNJ8  -     12p12.1   [Description]    (hg19-Feb_2009)
EnsemblKCNJ8 - 12p12.1 [CytoView hg19]  KCNJ8 - 12p12.1 [CytoView hg38]
Mapping of homologs : NCBIKCNJ8 [Mapview hg19]  KCNJ8 [Mapview hg38]
OMIM600935   
Gene and transcription
Genbank (Entrez)AK291821 AL546327 BC000544 BQ003792 BQ009215
RefSeq transcript (Entrez)NM_004982
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KCNJ8
Cluster EST : UnigeneHs.741642 [ NCBI ]
CGAP (NCI)Hs.741642
Alternative Splicing GalleryENSG00000121361
Gene ExpressionKCNJ8 [ NCBI-GEO ]   KCNJ8 [ EBI - ARRAY_EXPRESS ]   KCNJ8 [ SEEK ]   KCNJ8 [ MEM ]
Gene Expression Viewer (FireBrowse)KCNJ8 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3764
GTEX Portal (Tissue expression)KCNJ8
Human Protein AtlasENSG00000121361-KCNJ8 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ15842   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ15842  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ15842
Splice isoforms : SwissVarQ15842
PhosPhoSitePlusQ15842
Domains : Interpro (EBI)Ig_E-set    K_chnl_inward-rec_Kir    K_chnl_inward-rec_Kir6.1    K_chnl_inward-rec_Kir_cyto   
Domain families : Pfam (Sanger)IRK (PF01007)   
Domain families : Pfam (NCBI)pfam01007   
Conserved Domain (NCBI)KCNJ8
DMDM Disease mutations3764
Blocks (Seattle)KCNJ8
SuperfamilyQ15842
Human Protein Atlas [tissue]ENSG00000121361-KCNJ8 [tissue]
Peptide AtlasQ15842
HPRD02962
IPIIPI00020003   IPI00984961   
Protein Interaction databases
DIP (DOE-UCLA)Q15842
IntAct (EBI)Q15842
FunCoupENSG00000121361
BioGRIDKCNJ8
STRING (EMBL)KCNJ8
ZODIACKCNJ8
Ontologies - Pathways
QuickGOQ15842
Ontology : AmiGOkidney development  inward rectifier potassium channel activity  ATP binding  mitochondrion  plasma membrane  potassium ion transport  heart development  voltage-gated potassium channel complex  ATP-sensitive potassium channel complex  response to pH  ATP-activated inward rectifier potassium channel activity  sulfonylurea receptor binding  myofibril  response to lipopolysaccharide  regulation of ion transmembrane transport  vasodilation  sarcolemma  response to exogenous dsRNA  defense response to virus  membrane repolarization during ventricular cardiac muscle cell action potential  voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization  potassium ion import across plasma membrane  
Ontology : EGO-EBIkidney development  inward rectifier potassium channel activity  ATP binding  mitochondrion  plasma membrane  potassium ion transport  heart development  voltage-gated potassium channel complex  ATP-sensitive potassium channel complex  response to pH  ATP-activated inward rectifier potassium channel activity  sulfonylurea receptor binding  myofibril  response to lipopolysaccharide  regulation of ion transmembrane transport  vasodilation  sarcolemma  response to exogenous dsRNA  defense response to virus  membrane repolarization during ventricular cardiac muscle cell action potential  voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization  potassium ion import across plasma membrane  
NDEx NetworkKCNJ8
Atlas of Cancer Signalling NetworkKCNJ8
Wikipedia pathwaysKCNJ8
Orthology - Evolution
OrthoDB3764
GeneTree (enSembl)ENSG00000121361
Phylogenetic Trees/Animal Genes : TreeFamKCNJ8
HOVERGENQ15842
HOGENOMQ15842
Homologs : HomoloGeneKCNJ8
Homology/Alignments : Family Browser (UCSC)KCNJ8
Gene fusions - Rearrangements
Fusion: Tumor Portal KCNJ8
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKCNJ8 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KCNJ8
dbVarKCNJ8
ClinVarKCNJ8
1000_GenomesKCNJ8 
Exome Variant ServerKCNJ8
ExAC (Exome Aggregation Consortium)ENSG00000121361
GNOMAD BrowserENSG00000121361
Genetic variants : HAPMAP3764
Genomic Variants (DGV)KCNJ8 [DGVbeta]
DECIPHERKCNJ8 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKCNJ8 
Mutations
ICGC Data PortalKCNJ8 
TCGA Data PortalKCNJ8 
Broad Tumor PortalKCNJ8
OASIS PortalKCNJ8 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKCNJ8  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKCNJ8
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch KCNJ8
DgiDB (Drug Gene Interaction Database)KCNJ8
DoCM (Curated mutations)KCNJ8 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KCNJ8 (select a term)
intoGenKCNJ8
Cancer3DKCNJ8(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600935   
Orphanet1684    8022   
MedgenKCNJ8
Genetic Testing Registry KCNJ8
NextProtQ15842 [Medical]
TSGene3764
GENETestsKCNJ8
Target ValidationKCNJ8
Huge Navigator KCNJ8 [HugePedia]
snp3D : Map Gene to Disease3764
BioCentury BCIQKCNJ8
ClinGenKCNJ8
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3764
Chemical/Pharm GKB GenePA30050
Clinical trialKCNJ8
Miscellaneous
canSAR (ICR)KCNJ8 (select the gene name)
Probes
Litterature
PubMed46 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKCNJ8
EVEXKCNJ8
GoPubMedKCNJ8
iHOPKCNJ8
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 : Thu Nov 9 11:52:09 CET 2017

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