Atlas of Genetics and Cytogenetics in Oncology and Haematology


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KCNJ2 (potassium voltage-gated channel subfamily J member 2)

Identity

Alias_namespotassium inwardly-rectifying channel
Alias_symbol (synonym)Kir2.1
IRK1
LQT7
Other aliasATFB9
HHBIRK1
HHIRK1
KIR2.1
SQT3
HGNC (Hugo) KCNJ2
LocusID (NCBI) 3759
Atlas_Id 51201
Location 17q24.3  [Link to chromosome band 17q24]
Location_base_pair Starts at 68165676 and ends at 68176183 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
MED13 (17q23.2) / KCNJ2 (17q24.3)MED13 17q23.2 / KCNJ2 17q24.3

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)KCNJ2   6263
LRG (Locus Reference Genomic)LRG_328
Cards
Entrez_Gene (NCBI)KCNJ2  3759  potassium voltage-gated channel subfamily J member 2
AliasesATFB9; HHBIRK1; HHIRK1; IRK1; 
KIR2.1; LQT7; SQT3
GeneCards (Weizmann)KCNJ2
Ensembl hg19 (Hinxton)ENSG00000123700 [Gene_View]  chr17:68165676-68176183 [Contig_View]  KCNJ2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000123700 [Gene_View]  chr17:68165676-68176183 [Contig_View]  KCNJ2 [Vega]
ICGC DataPortalENSG00000123700
TCGA cBioPortalKCNJ2
AceView (NCBI)KCNJ2
Genatlas (Paris)KCNJ2
WikiGenes3759
SOURCE (Princeton)KCNJ2
Genetics Home Reference (NIH)KCNJ2
Genomic and cartography
GoldenPath hg19 (UCSC)KCNJ2  -     chr17:68165676-68176183 +  17q24.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)KCNJ2  -     17q24.3   [Description]    (hg38-Dec_2013)
EnsemblKCNJ2 - 17q24.3 [CytoView hg19]  KCNJ2 - 17q24.3 [CytoView hg38]
Mapping of homologs : NCBIKCNJ2 [Mapview hg19]  KCNJ2 [Mapview hg38]
OMIM170390   600681   609622   613980   
Gene and transcription
Genbank (Entrez)AF011904 AF021139 AF153820 AK314081 BC152811
RefSeq transcript (Entrez)NM_000891
RefSeq genomic (Entrez)NC_000017 NC_018928 NG_008798 NT_010783 NW_004929407
Consensus coding sequences : CCDS (NCBI)KCNJ2
Cluster EST : UnigeneHs.1547 [ NCBI ]
CGAP (NCI)Hs.1547
Alternative Splicing GalleryENSG00000123700
Gene ExpressionKCNJ2 [ NCBI-GEO ]   KCNJ2 [ EBI - ARRAY_EXPRESS ]   KCNJ2 [ SEEK ]   KCNJ2 [ MEM ]
Gene Expression Viewer (FireBrowse)KCNJ2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3759
GTEX Portal (Tissue expression)KCNJ2
Protein : pattern, domain, 3D structure
UniProt/SwissProtP63252   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP63252  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP63252
Splice isoforms : SwissVarP63252
PhosPhoSitePlusP63252
Domains : Interpro (EBI)Ig_E-set    K_chnl_inward-rec_Kir    K_chnl_inward-rec_Kir2.1    K_chnl_inward-rec_Kir_cyto    K_chnl_inward-rec_Kir_N   
Domain families : Pfam (Sanger)IRK (PF01007)    IRK_N (PF08466)   
Domain families : Pfam (NCBI)pfam01007    pfam08466   
Conserved Domain (NCBI)KCNJ2
DMDM Disease mutations3759
Blocks (Seattle)KCNJ2
SuperfamilyP63252
Human Protein AtlasENSG00000123700
Peptide AtlasP63252
HPRD02815
IPIIPI00007614   
Protein Interaction databases
DIP (DOE-UCLA)P63252
IntAct (EBI)P63252
FunCoupENSG00000123700
BioGRIDKCNJ2
STRING (EMBL)KCNJ2
ZODIACKCNJ2
Ontologies - Pathways
QuickGOP63252
Ontology : AmiGOinward rectifier potassium channel activity  phosphatidylinositol-4,5-bisphosphate binding  smooth endoplasmic reticulum  rough endoplasmic reticulum  Golgi apparatus  plasma membrane  integral component of plasma membrane  potassium ion transport  voltage-gated potassium channel complex  potassium ion import  intercalated disc  regulation of skeletal muscle contraction via regulation of action potential  G-protein activated inward rectifier potassium channel activity  magnesium ion transport  cellular potassium ion homeostasis  T-tubule  intrinsic component of membrane  identical protein binding  neuronal cell body  dendritic spine  protein homotetramerization  relaxation of cardiac muscle  regulation of resting membrane potential  regulation of membrane repolarization  cardiac conduction  cellular response to mechanical stimulus  potassium ion transmembrane transport  cardiac muscle cell action potential involved in contraction  regulation of cardiac muscle cell contraction  voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization  membrane repolarization during action potential  membrane depolarization during cardiac muscle cell action potential  membrane repolarization during cardiac muscle cell action potential  membrane repolarization during cardiac muscle cell action potential  regulation of heart rate by cardiac conduction  relaxation of skeletal muscle  positive regulation of potassium ion transmembrane transport  
Ontology : EGO-EBIinward rectifier potassium channel activity  phosphatidylinositol-4,5-bisphosphate binding  smooth endoplasmic reticulum  rough endoplasmic reticulum  Golgi apparatus  plasma membrane  integral component of plasma membrane  potassium ion transport  voltage-gated potassium channel complex  potassium ion import  intercalated disc  regulation of skeletal muscle contraction via regulation of action potential  G-protein activated inward rectifier potassium channel activity  magnesium ion transport  cellular potassium ion homeostasis  T-tubule  intrinsic component of membrane  identical protein binding  neuronal cell body  dendritic spine  protein homotetramerization  relaxation of cardiac muscle  regulation of resting membrane potential  regulation of membrane repolarization  cardiac conduction  cellular response to mechanical stimulus  potassium ion transmembrane transport  cardiac muscle cell action potential involved in contraction  regulation of cardiac muscle cell contraction  voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization  membrane repolarization during action potential  membrane depolarization during cardiac muscle cell action potential  membrane repolarization during cardiac muscle cell action potential  membrane repolarization during cardiac muscle cell action potential  regulation of heart rate by cardiac conduction  relaxation of skeletal muscle  positive regulation of potassium ion transmembrane transport  
Pathways : KEGGCholinergic synapse    Gastric acid secretion   
NDEx NetworkKCNJ2
Atlas of Cancer Signalling NetworkKCNJ2
Wikipedia pathwaysKCNJ2
Orthology - Evolution
OrthoDB3759
GeneTree (enSembl)ENSG00000123700
Phylogenetic Trees/Animal Genes : TreeFamKCNJ2
HOVERGENP63252
HOGENOMP63252
Homologs : HomoloGeneKCNJ2
Homology/Alignments : Family Browser (UCSC)KCNJ2
Gene fusions - Rearrangements
Fusion : MitelmanMED13/KCNJ2 [17q23.2/17q24.3]  [t(17;17)(q23;q24)]  
Fusion: TCGAMED13 17q23.2 KCNJ2 17q24.3 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKCNJ2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KCNJ2
dbVarKCNJ2
ClinVarKCNJ2
1000_GenomesKCNJ2 
Exome Variant ServerKCNJ2
ExAC (Exome Aggregation Consortium)KCNJ2 (select the gene name)
Genetic variants : HAPMAP3759
Genomic Variants (DGV)KCNJ2 [DGVbeta]
DECIPHER (Syndromes)17:68165676-68176183  ENSG00000123700
CONAN: Copy Number AnalysisKCNJ2 
Mutations
ICGC Data PortalKCNJ2 
TCGA Data PortalKCNJ2 
Broad Tumor PortalKCNJ2
OASIS PortalKCNJ2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKCNJ2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKCNJ2
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)Mendelian genes
LOVD (Leiden Open Variation Database)Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
BioMutasearch KCNJ2
DgiDB (Drug Gene Interaction Database)KCNJ2
DoCM (Curated mutations)KCNJ2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KCNJ2 (select a term)
intoGenKCNJ2
Cancer3DKCNJ2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM170390    600681    609622    613980   
Orphanet8592    10442    10670   
MedgenKCNJ2
Genetic Testing Registry KCNJ2
NextProtP63252 [Medical]
TSGene3759
GENETestsKCNJ2
Huge Navigator KCNJ2 [HugePedia]
snp3D : Map Gene to Disease3759
BioCentury BCIQKCNJ2
ClinGenKCNJ2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3759
Chemical/Pharm GKB GenePA214
Clinical trialKCNJ2
Miscellaneous
canSAR (ICR)KCNJ2 (select the gene name)
Probes
Litterature
PubMed131 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKCNJ2
EVEXKCNJ2
GoPubMedKCNJ2
iHOPKCNJ2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 15:05:52 CEST 2017

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