Atlas of Genetics and Cytogenetics in Oncology and Haematology


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KCNJ4 (potassium voltage-gated channel subfamily J member 4)

Identity

Alias_namespotassium inwardly-rectifying channel
Alias_symbol (synonym)Kir2.3
HIR
HRK1
hIRK2
IRK3
Other aliasHIRK2
IRK-3
HGNC (Hugo) KCNJ4
LocusID (NCBI) 3761
Atlas_Id 51194
Location 22q13.1  [Link to chromosome band 22q13]
Location_base_pair Starts at 38426328 and ends at 38455199 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)
CELSR1 (22q13.31) / KCNJ4 (22q13.1)MAPK1 (22q11.21) / KCNJ4 (22q13.1)MAPK1 22q11.21 / KCNJ4 22q13.1

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  del(22)(q13q13) CELSR1/KCNJ4
t(22;22)(q11;q13) MAPK1/KCNJ4


External links

Nomenclature
HGNC (Hugo)KCNJ4   6265
Cards
Entrez_Gene (NCBI)KCNJ4  3761  potassium voltage-gated channel subfamily J member 4
AliasesHIR; HIRK2; HRK1; IRK-3; 
IRK3; Kir2.3
GeneCards (Weizmann)KCNJ4
Ensembl hg19 (Hinxton)ENSG00000168135 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000168135 [Gene_View]  ENSG00000168135 [Sequence]  chr22:38426328-38455199 [Contig_View]  KCNJ4 [Vega]
ICGC DataPortalENSG00000168135
TCGA cBioPortalKCNJ4
AceView (NCBI)KCNJ4
Genatlas (Paris)KCNJ4
WikiGenes3761
SOURCE (Princeton)KCNJ4
Genetics Home Reference (NIH)KCNJ4
Genomic and cartography
GoldenPath hg38 (UCSC)KCNJ4  -     chr22:38426328-38455199 -  22q13.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KCNJ4  -     22q13.1   [Description]    (hg19-Feb_2009)
EnsemblKCNJ4 - 22q13.1 [CytoView hg19]  KCNJ4 - 22q13.1 [CytoView hg38]
Mapping of homologs : NCBIKCNJ4 [Mapview hg19]  KCNJ4 [Mapview hg38]
OMIM600504   
Gene and transcription
Genbank (Entrez)BC032562 BC039618 BC113506 BC113508 BM475496
RefSeq transcript (Entrez)NM_004981 NM_152868
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KCNJ4
Cluster EST : UnigeneHs.32505 [ NCBI ]
CGAP (NCI)Hs.32505
Alternative Splicing GalleryENSG00000168135
Gene ExpressionKCNJ4 [ NCBI-GEO ]   KCNJ4 [ EBI - ARRAY_EXPRESS ]   KCNJ4 [ SEEK ]   KCNJ4 [ MEM ]
Gene Expression Viewer (FireBrowse)KCNJ4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3761
GTEX Portal (Tissue expression)KCNJ4
Human Protein AtlasENSG00000168135-KCNJ4 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP48050   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP48050  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP48050
Splice isoforms : SwissVarP48050
PhosPhoSitePlusP48050
Domains : Interpro (EBI)Ig_E-set    K_chnl_inward-rec_Kir    K_chnl_inward-rec_Kir2.3    K_chnl_inward-rec_Kir_cyto   
Domain families : Pfam (Sanger)IRK (PF01007)   
Domain families : Pfam (NCBI)pfam01007   
Conserved Domain (NCBI)KCNJ4
DMDM Disease mutations3761
Blocks (Seattle)KCNJ4
PDB (SRS)3GJ9   
PDB (PDBSum)3GJ9   
PDB (IMB)3GJ9   
PDB (RSDB)3GJ9   
Structural Biology KnowledgeBase3GJ9   
SCOP (Structural Classification of Proteins)3GJ9   
CATH (Classification of proteins structures)3GJ9   
SuperfamilyP48050
Human Protein Atlas [tissue]ENSG00000168135-KCNJ4 [tissue]
Peptide AtlasP48050
HPRD02738
IPIIPI00007626   
Protein Interaction databases
DIP (DOE-UCLA)P48050
IntAct (EBI)P48050
FunCoupENSG00000168135
BioGRIDKCNJ4
STRING (EMBL)KCNJ4
ZODIACKCNJ4
Ontologies - Pathways
QuickGOP48050
Ontology : AmiGOinward rectifier potassium channel activity  protein binding  plasma membrane  potassium ion transport  voltage-gated potassium channel complex  G-protein activated inward rectifier potassium channel activity  basolateral plasma membrane  cell junction  PDZ domain binding  cytoplasmic vesicle membrane  regulation of ion transmembrane transport  postsynaptic membrane  potassium ion import across plasma membrane  
Ontology : EGO-EBIinward rectifier potassium channel activity  protein binding  plasma membrane  potassium ion transport  voltage-gated potassium channel complex  G-protein activated inward rectifier potassium channel activity  basolateral plasma membrane  cell junction  PDZ domain binding  cytoplasmic vesicle membrane  regulation of ion transmembrane transport  postsynaptic membrane  potassium ion import across plasma membrane  
Pathways : KEGGCholinergic synapse   
NDEx NetworkKCNJ4
Atlas of Cancer Signalling NetworkKCNJ4
Wikipedia pathwaysKCNJ4
Orthology - Evolution
OrthoDB3761
GeneTree (enSembl)ENSG00000168135
Phylogenetic Trees/Animal Genes : TreeFamKCNJ4
HOVERGENP48050
HOGENOMP48050
Homologs : HomoloGeneKCNJ4
Homology/Alignments : Family Browser (UCSC)KCNJ4
Gene fusions - Rearrangements
Fusion : MitelmanCELSR1/KCNJ4 [22q13.31/22q13.1]  [del(22)(q13q13)]  
Fusion : MitelmanMAPK1/KCNJ4 [22q11.21/22q13.1]  [t(22;22)(q11;q13)]  
Fusion PortalMAPK1 22q11.21 KCNJ4 22q13.1 BRCA
Fusion : QuiverKCNJ4
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKCNJ4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KCNJ4
dbVarKCNJ4
ClinVarKCNJ4
1000_GenomesKCNJ4 
Exome Variant ServerKCNJ4
ExAC (Exome Aggregation Consortium)ENSG00000168135
GNOMAD BrowserENSG00000168135
Varsome BrowserKCNJ4
Genetic variants : HAPMAP3761
Genomic Variants (DGV)KCNJ4 [DGVbeta]
DECIPHERKCNJ4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKCNJ4 
Mutations
ICGC Data PortalKCNJ4 
TCGA Data PortalKCNJ4 
Broad Tumor PortalKCNJ4
OASIS PortalKCNJ4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKCNJ4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKCNJ4
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 KCNJ4
DgiDB (Drug Gene Interaction Database)KCNJ4
DoCM (Curated mutations)KCNJ4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KCNJ4 (select a term)
intoGenKCNJ4
Cancer3DKCNJ4(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600504   
Orphanet
DisGeNETKCNJ4
MedgenKCNJ4
Genetic Testing Registry KCNJ4
NextProtP48050 [Medical]
TSGene3761
GENETestsKCNJ4
Target ValidationKCNJ4
Huge Navigator KCNJ4 [HugePedia]
snp3D : Map Gene to Disease3761
BioCentury BCIQKCNJ4
ClinGenKCNJ4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3761
Chemical/Pharm GKB GenePA30048
Clinical trialKCNJ4
Miscellaneous
canSAR (ICR)KCNJ4 (select the gene name)
Probes
Litterature
PubMed37 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKCNJ4
EVEXKCNJ4
GoPubMedKCNJ4
iHOPKCNJ4
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 : Tue Nov 6 11:14:32 CET 2018

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