Atlas of Genetics and Cytogenetics in Oncology and Haematology


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KCNJ11 (potassium voltage-gated channel subfamily J member 11)

Identity

Alias_namespotassium inwardly-rectifying channel
Alias_symbol (synonym)Kir6.2
BIR
HGNC (Hugo) KCNJ11
LocusID (NCBI) 3767
Atlas_Id 53794
Location 11p15.1  [Link to chromosome band 11p15]
Location_base_pair Starts at 17406796 and ends at 17410206 bp from pter ( according to hg19-Feb_2009)

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)KCNJ11   6257
Cards
Entrez_Gene (NCBI)KCNJ11  3767  potassium voltage-gated channel subfamily J member 11
AliasesBIR; HHF2; IKATP; KIR6.2; 
MODY13; PHHI; TNDM3
GeneCards (Weizmann)KCNJ11
Ensembl hg19 (Hinxton)ENSG00000187486 [Gene_View]  chr11:17406796-17410206 [Contig_View]  KCNJ11 [Vega]
Ensembl hg38 (Hinxton)ENSG00000187486 [Gene_View]  chr11:17406796-17410206 [Contig_View]  KCNJ11 [Vega]
ICGC DataPortalENSG00000187486
TCGA cBioPortalKCNJ11
AceView (NCBI)KCNJ11
Genatlas (Paris)KCNJ11
WikiGenes3767
SOURCE (Princeton)KCNJ11
Genetics Home Reference (NIH)KCNJ11
Genomic and cartography
GoldenPath hg19 (UCSC)KCNJ11  -     chr11:17406796-17410206 -  11p15.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)KCNJ11  -     11p15.1   [Description]    (hg38-Dec_2013)
EnsemblKCNJ11 - 11p15.1 [CytoView hg19]  KCNJ11 - 11p15.1 [CytoView hg38]
Mapping of homologs : NCBIKCNJ11 [Mapview hg19]  KCNJ11 [Mapview hg38]
OMIM125853   600937   601820   606176   610582   616329   
Gene and transcription
Genbank (Entrez)AI377272 AK301550 AK314943 BC040617 BC064497
RefSeq transcript (Entrez)NM_000525 NM_001166290
RefSeq genomic (Entrez)NC_000011 NC_018922 NG_012446 NT_009237 NW_004929378
Consensus coding sequences : CCDS (NCBI)KCNJ11
Cluster EST : UnigeneHs.248141 [ NCBI ]
CGAP (NCI)Hs.248141
Alternative Splicing GalleryENSG00000187486
Gene ExpressionKCNJ11 [ NCBI-GEO ]   KCNJ11 [ EBI - ARRAY_EXPRESS ]   KCNJ11 [ SEEK ]   KCNJ11 [ MEM ]
Gene Expression Viewer (FireBrowse)KCNJ11 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3767
GTEX Portal (Tissue expression)KCNJ11
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ14654   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ14654  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ14654
Splice isoforms : SwissVarQ14654
PhosPhoSitePlusQ14654
Domains : Interpro (EBI)Ig_E-set    K_chnl_inward-rec_Kir    K_chnl_inward-rec_Kir6.2    K_chnl_inward-rec_Kir_cyto   
Domain families : Pfam (Sanger)IRK (PF01007)   
Domain families : Pfam (NCBI)pfam01007   
Conserved Domain (NCBI)KCNJ11
DMDM Disease mutations3767
Blocks (Seattle)KCNJ11
SuperfamilyQ14654
Human Protein AtlasENSG00000187486
Peptide AtlasQ14654
HPRD09022
IPIIPI00291902   IPI00953564   IPI00980434   IPI00978316   
Protein Interaction databases
DIP (DOE-UCLA)Q14654
IntAct (EBI)Q14654
FunCoupENSG00000187486
BioGRIDKCNJ11
STRING (EMBL)KCNJ11
ZODIACKCNJ11
Ontologies - Pathways
QuickGOQ14654
Ontology : AmiGOresponse to ischemia  voltage-gated potassium channel activity  ATP binding  ATP binding  nuclear envelope  mitochondrion  endosome  endoplasmic reticulum  cytosol  plasma membrane  plasma membrane  integral component of plasma membrane  glucose metabolic process  protein C-terminus binding  voltage-gated potassium channel complex  ATP-sensitive potassium channel complex  ATP-sensitive potassium channel complex  potassium ion import  potassium ion import  intercalated disc  ATP-activated inward rectifier potassium channel activity  ATP-activated inward rectifier potassium channel activity  T-tubule  ankyrin binding  axolemma  potassium ion binding  heat shock protein binding  response to estradiol  response to ATP  response to testosterone  regulation of membrane potential  response to drug  neuronal cell body  myelin sheath  ion channel binding  negative regulation of insulin secretion  regulation of insulin secretion  regulation of insulin secretion  neurological system process  transmembrane transport  cell body fiber  cellular response to nicotine  cellular response to glucose stimulus  cellular response to tumor necrosis factor  potassium ion transmembrane transport  regulation of cardiac conduction  positive regulation of cation channel activity  
Ontology : EGO-EBIresponse to ischemia  voltage-gated potassium channel activity  ATP binding  ATP binding  nuclear envelope  mitochondrion  endosome  endoplasmic reticulum  cytosol  plasma membrane  plasma membrane  integral component of plasma membrane  glucose metabolic process  protein C-terminus binding  voltage-gated potassium channel complex  ATP-sensitive potassium channel complex  ATP-sensitive potassium channel complex  potassium ion import  potassium ion import  intercalated disc  ATP-activated inward rectifier potassium channel activity  ATP-activated inward rectifier potassium channel activity  T-tubule  ankyrin binding  axolemma  potassium ion binding  heat shock protein binding  response to estradiol  response to ATP  response to testosterone  regulation of membrane potential  response to drug  neuronal cell body  myelin sheath  ion channel binding  negative regulation of insulin secretion  regulation of insulin secretion  regulation of insulin secretion  neurological system process  transmembrane transport  cell body fiber  cellular response to nicotine  cellular response to glucose stimulus  cellular response to tumor necrosis factor  potassium ion transmembrane transport  regulation of cardiac conduction  positive regulation of cation channel activity  
Pathways : KEGGInsulin secretion    Type II diabetes mellitus   
NDEx NetworkKCNJ11
Atlas of Cancer Signalling NetworkKCNJ11
Wikipedia pathwaysKCNJ11
Orthology - Evolution
OrthoDB3767
GeneTree (enSembl)ENSG00000187486
Phylogenetic Trees/Animal Genes : TreeFamKCNJ11
HOVERGENQ14654
HOGENOMQ14654
Homologs : HomoloGeneKCNJ11
Homology/Alignments : Family Browser (UCSC)KCNJ11
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKCNJ11 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KCNJ11
dbVarKCNJ11
ClinVarKCNJ11
1000_GenomesKCNJ11 
Exome Variant ServerKCNJ11
ExAC (Exome Aggregation Consortium)KCNJ11 (select the gene name)
Genetic variants : HAPMAP3767
Genomic Variants (DGV)KCNJ11 [DGVbeta]
DECIPHER (Syndromes)11:17406796-17410206  ENSG00000187486
CONAN: Copy Number AnalysisKCNJ11 
Mutations
ICGC Data PortalKCNJ11 
TCGA Data PortalKCNJ11 
Broad Tumor PortalKCNJ11
OASIS PortalKCNJ11 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKCNJ11  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKCNJ11
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
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
LOVD (Leiden Open Variation Database)LOVD - Munich Open Variation Database
BioMutasearch KCNJ11
DgiDB (Drug Gene Interaction Database)KCNJ11
DoCM (Curated mutations)KCNJ11 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KCNJ11 (select a term)
intoGenKCNJ11
Cancer3DKCNJ11(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM125853    600937    601820    606176    610582    616329   
Orphanet20385    20388    8028    11160    11542    14562    14458    14459   
MedgenKCNJ11
Genetic Testing Registry KCNJ11
NextProtQ14654 [Medical]
TSGene3767
GENETestsKCNJ11
Huge Navigator KCNJ11 [HugePedia]
snp3D : Map Gene to Disease3767
BioCentury BCIQKCNJ11
ClinGenKCNJ11
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3767
Chemical/Pharm GKB GenePA217
Clinical trialKCNJ11
Miscellaneous
canSAR (ICR)KCNJ11 (select the gene name)
Probes
Litterature
PubMed335 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKCNJ11
EVEXKCNJ11
GoPubMedKCNJ11
iHOPKCNJ11
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Nov 18 19:40:57 CET 2016

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