Atlas of Genetics and Cytogenetics in Oncology and Haematology


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KCNJ2 (potassium inwardly rectifying channel subfamily J member 2)

Identity

Alias (NCBI)ATFB9
HHBIRK1
HHIRK1
IRK1
KIR2.1
LQT7
SQT3
HGNC (Hugo) KCNJ2
HGNC Alias symbKir2.1
IRK1
LQT7
HGNC Previous namepotassium inwardly-rectifying channel, subfamily J, member 2
LocusID (NCBI) 3759
Atlas_Id 51201
Location 17q24.3  [Link to chromosome band 17q24]
Location_base_pair Starts at 70169532 and ends at 70180042 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)
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    potassium inwardly rectifying channel subfamily J member 2
AliasesATFB9; HHBIRK1; HHIRK1; IRK1; 
KIR2.1; LQT7; SQT3
GeneCards (Weizmann)KCNJ2
Ensembl hg19 (Hinxton)ENSG00000123700 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000123700 [Gene_View]  ENSG00000123700 [Sequence]  chr17:70169532-70180042 [Contig_View]  KCNJ2 [Vega]
ICGC DataPortalENSG00000123700
TCGA cBioPortalKCNJ2
AceView (NCBI)KCNJ2
Genatlas (Paris)KCNJ2
SOURCE (Princeton)KCNJ2
Genetics Home Reference (NIH)KCNJ2
Genomic and cartography
GoldenPath hg38 (UCSC)KCNJ2  -     chr17:70169532-70180042 +  17q24.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KCNJ2  -     17q24.3   [Description]    (hg19-Feb_2009)
GoldenPathKCNJ2 - 17q24.3 [CytoView hg19]  KCNJ2 - 17q24.3 [CytoView hg38]
ImmunoBaseENSG00000123700
Genome Data Viewer NCBIKCNJ2 [Mapview hg19]  
OMIM170390   600681   609622   613980   
Gene and transcription
Genbank (Entrez)AF011904 AF021139 AF153820 AK314081 U12507
RefSeq transcript (Entrez)NM_000891
Consensus coding sequences : CCDS (NCBI)KCNJ2
Gene ExpressionKCNJ2 [ NCBI-GEO ]   KCNJ2 [ EBI - ARRAY_EXPRESS ]   KCNJ2 [ SEEK ]   KCNJ2 [ MEM ]
Gene Expression Viewer (FireBrowse)KCNJ2 [ Firebrowse - Broad ]
GenevisibleExpression of KCNJ2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3759
GTEX Portal (Tissue expression)KCNJ2
Human Protein AtlasENSG00000123700-KCNJ2 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusP63252
Domains : Interpro (EBI)Ig_E-set    IRK_C    K_chnl_inward-rec_Kir    K_chnl_inward-rec_Kir2.1    K_chnl_inward-rec_Kir_cyto    K_chnl_inward-rec_Kir_N    Kir_TM   
Domain families : Pfam (Sanger)IRK (PF01007)    IRK_C (PF17655)    IRK_N (PF08466)   
Domain families : Pfam (NCBI)pfam01007    pfam17655    pfam08466   
Conserved Domain (NCBI)KCNJ2
PDB (RSDB)6SPZ   
PDB Europe6SPZ   
PDB (PDBSum)6SPZ   
PDB (IMB)6SPZ   
Structural Biology KnowledgeBase6SPZ   
SCOP (Structural Classification of Proteins)6SPZ   
CATH (Classification of proteins structures)6SPZ   
SuperfamilyP63252
AlphaFold pdb e-kbP63252   
Human Protein Atlas [tissue]ENSG00000123700-KCNJ2 [tissue]
HPRD02815
Protein Interaction databases
DIP (DOE-UCLA)P63252
IntAct (EBI)P63252
BioGRIDKCNJ2
STRING (EMBL)KCNJ2
ZODIACKCNJ2
Ontologies - Pathways
QuickGOP63252
Ontology : AmiGOinward rectifier potassium channel activity  inward rectifier potassium channel activity  protein binding  phosphatidylinositol-4,5-bisphosphate binding  smooth endoplasmic reticulum  rough endoplasmic reticulum  Golgi apparatus  plasma membrane  plasma membrane  integral component of plasma membrane  potassium ion transport  voltage-gated potassium channel complex  intercalated disc  regulation of skeletal muscle contraction via regulation of action potential  magnesium ion transport  cellular potassium ion homeostasis  T-tubule  intrinsic component of membrane  regulation of ion transmembrane transport  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  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  potassium ion import across plasma membrane  potassium ion import across plasma membrane  
Ontology : EGO-EBIinward rectifier potassium channel activity  inward rectifier potassium channel activity  protein binding  phosphatidylinositol-4,5-bisphosphate binding  smooth endoplasmic reticulum  rough endoplasmic reticulum  Golgi apparatus  plasma membrane  plasma membrane  integral component of plasma membrane  potassium ion transport  voltage-gated potassium channel complex  intercalated disc  regulation of skeletal muscle contraction via regulation of action potential  magnesium ion transport  cellular potassium ion homeostasis  T-tubule  intrinsic component of membrane  regulation of ion transmembrane transport  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  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  potassium ion import across plasma membrane  potassium ion import across plasma membrane  
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
Homologs : HomoloGeneKCNJ2
Homology/Alignments : Family Browser (UCSC)KCNJ2
Gene fusions - Rearrangements
Fusion : MitelmanMED13/KCNJ2 [17q23.2/17q24.3]  
Fusion : QuiverKCNJ2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKCNJ2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KCNJ2
dbVarKCNJ2
ClinVarKCNJ2
MonarchKCNJ2
1000_GenomesKCNJ2 
Exome Variant ServerKCNJ2
GNOMAD BrowserENSG00000123700
Varsome BrowserKCNJ2
ACMGKCNJ2 variants
VarityP63252
Genomic Variants (DGV)KCNJ2 [DGVbeta]
DECIPHERKCNJ2 [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DKCNJ2
Mutations and Diseases : HGMDKCNJ2
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaKCNJ2
DgiDB (Drug Gene Interaction Database)KCNJ2
DoCM (Curated mutations)KCNJ2
CIViC (Clinical Interpretations of Variants in Cancer)KCNJ2
Cancer3DKCNJ2
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM170390    600681    609622    613980   
Orphanet8592    10442    10670   
DisGeNETKCNJ2
MedgenKCNJ2
Genetic Testing Registry KCNJ2
NextProtP63252 [Medical]
GENETestsKCNJ2
Target ValidationKCNJ2
Huge Navigator KCNJ2 [HugePedia]
ClinGenKCNJ2
Clinical trials, drugs, therapy
MyCancerGenomeKCNJ2
Protein Interactions : CTDKCNJ2
Pharm GKB GenePA214
PharosP63252
Clinical trialKCNJ2
Miscellaneous
canSAR (ICR)KCNJ2
HarmonizomeKCNJ2
DataMed IndexKCNJ2
Probes
Litterature
PubMed159 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXKCNJ2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Oct 4 15:14:41 CEST 2021

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