Atlas of Genetics and Cytogenetics in Oncology and Haematology


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KCNJ3 (potassium voltage-gated channel subfamily J member 3)

Identity

Alias_namespotassium inwardly-rectifying channel
Alias_symbol (synonym)Kir3.1
GIRK1
KGA
Other aliasKIR3.1
HGNC (Hugo) KCNJ3
LocusID (NCBI) 3760
Atlas_Id 45811
Location 2q24.1  [Link to chromosome band 2q24]
Location_base_pair Starts at 154698581 and ends at 154858352 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)
KCNJ3 (2q24.1) / GALNT13 (2q23.3)KCNJ3 (2q24.1) / KCNJ3 (2q24.1)KCNJ3 2q24.1 / GALNT13 2q23.3

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(2;2)(q23;q24) KCNJ3/GALNT13


External links

Nomenclature
HGNC (Hugo)KCNJ3   6264
Cards
Entrez_Gene (NCBI)KCNJ3  3760  potassium voltage-gated channel subfamily J member 3
AliasesGIRK1; KGA; KIR3.1
GeneCards (Weizmann)KCNJ3
Ensembl hg19 (Hinxton)ENSG00000162989 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000162989 [Gene_View]  ENSG00000162989 [Sequence]  chr2:154698581-154858352 [Contig_View]  KCNJ3 [Vega]
ICGC DataPortalENSG00000162989
TCGA cBioPortalKCNJ3
AceView (NCBI)KCNJ3
Genatlas (Paris)KCNJ3
WikiGenes3760
SOURCE (Princeton)KCNJ3
Genetics Home Reference (NIH)KCNJ3
Genomic and cartography
GoldenPath hg38 (UCSC)KCNJ3  -     chr2:154698581-154858352 +  2q24.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KCNJ3  -     2q24.1   [Description]    (hg19-Feb_2009)
EnsemblKCNJ3 - 2q24.1 [CytoView hg19]  KCNJ3 - 2q24.1 [CytoView hg38]
Mapping of homologs : NCBIKCNJ3 [Mapview hg19]  KCNJ3 [Mapview hg38]
OMIM601534   
Gene and transcription
Genbank (Entrez)AK026384 AK293824 AK293924 AW949825 BC022495
RefSeq transcript (Entrez)NM_001260508 NM_001260509 NM_001260510 NM_002239
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KCNJ3
Cluster EST : UnigeneHs.591606 [ NCBI ]
CGAP (NCI)Hs.591606
Alternative Splicing GalleryENSG00000162989
Gene ExpressionKCNJ3 [ NCBI-GEO ]   KCNJ3 [ EBI - ARRAY_EXPRESS ]   KCNJ3 [ SEEK ]   KCNJ3 [ MEM ]
Gene Expression Viewer (FireBrowse)KCNJ3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3760
GTEX Portal (Tissue expression)KCNJ3
Human Protein AtlasENSG00000162989-KCNJ3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP48549   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP48549  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP48549
Splice isoforms : SwissVarP48549
PhosPhoSitePlusP48549
Domains : Interpro (EBI)Ig_E-set    K_chnl_inward-rec_Kir    K_chnl_inward-rec_Kir3.1    K_chnl_inward-rec_Kir_cyto   
Domain families : Pfam (Sanger)IRK (PF01007)   
Domain families : Pfam (NCBI)pfam01007   
Conserved Domain (NCBI)KCNJ3
DMDM Disease mutations3760
Blocks (Seattle)KCNJ3
SuperfamilyP48549
Human Protein Atlas [tissue]ENSG00000162989-KCNJ3 [tissue]
Peptide AtlasP48549
HPRD03323
IPIIPI00010176   IPI01015648   IPI00955420   
Protein Interaction databases
DIP (DOE-UCLA)P48549
IntAct (EBI)P48549
FunCoupENSG00000162989
BioGRIDKCNJ3
STRING (EMBL)KCNJ3
ZODIACKCNJ3
Ontologies - Pathways
QuickGOP48549
Ontology : AmiGOinward rectifier potassium channel activity  inward rectifier potassium channel activity  protein binding  plasma membrane  potassium ion transport  voltage-gated potassium channel complex  external side of plasma membrane  G-protein activated inward rectifier potassium channel activity  T-tubule  regulation of ion transmembrane transport  response to electrical stimulus  voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization  regulation of heart rate by cardiac conduction  parallel fiber to Purkinje cell synapse  membrane repolarization during atrial cardiac muscle cell action potential  membrane repolarization during ventricular cardiac muscle cell action potential  integral component of presynaptic membrane  ventricular cardiac muscle cell membrane repolarization  voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization  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  plasma membrane  potassium ion transport  voltage-gated potassium channel complex  external side of plasma membrane  G-protein activated inward rectifier potassium channel activity  T-tubule  regulation of ion transmembrane transport  response to electrical stimulus  voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization  regulation of heart rate by cardiac conduction  parallel fiber to Purkinje cell synapse  membrane repolarization during atrial cardiac muscle cell action potential  membrane repolarization during ventricular cardiac muscle cell action potential  integral component of presynaptic membrane  ventricular cardiac muscle cell membrane repolarization  voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization  potassium ion import across plasma membrane  potassium ion import across plasma membrane  
Pathways : KEGGCircadian entrainment    Retrograde endocannabinoid signaling    Glutamatergic synapse    Cholinergic synapse    Serotonergic synapse    Dopaminergic synapse    Estrogen signaling pathway    Morphine addiction   
NDEx NetworkKCNJ3
Atlas of Cancer Signalling NetworkKCNJ3
Wikipedia pathwaysKCNJ3
Orthology - Evolution
OrthoDB3760
GeneTree (enSembl)ENSG00000162989
Phylogenetic Trees/Animal Genes : TreeFamKCNJ3
HOVERGENP48549
HOGENOMP48549
Homologs : HomoloGeneKCNJ3
Homology/Alignments : Family Browser (UCSC)KCNJ3
Gene fusions - Rearrangements
Fusion : MitelmanKCNJ3/GALNT13 [2q24.1/2q23.3]  
Fusion PortalKCNJ3 2q24.1 GALNT13 2q23.3 BRCA
Fusion : QuiverKCNJ3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKCNJ3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KCNJ3
dbVarKCNJ3
ClinVarKCNJ3
1000_GenomesKCNJ3 
Exome Variant ServerKCNJ3
ExAC (Exome Aggregation Consortium)ENSG00000162989
GNOMAD BrowserENSG00000162989
Varsome BrowserKCNJ3
Genetic variants : HAPMAP3760
Genomic Variants (DGV)KCNJ3 [DGVbeta]
DECIPHERKCNJ3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKCNJ3 
Mutations
ICGC Data PortalKCNJ3 
TCGA Data PortalKCNJ3 
Broad Tumor PortalKCNJ3
OASIS PortalKCNJ3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKCNJ3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKCNJ3
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 KCNJ3
DgiDB (Drug Gene Interaction Database)KCNJ3
DoCM (Curated mutations)KCNJ3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KCNJ3 (select a term)
intoGenKCNJ3
Cancer3DKCNJ3(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601534   
Orphanet
DisGeNETKCNJ3
MedgenKCNJ3
Genetic Testing Registry KCNJ3
NextProtP48549 [Medical]
TSGene3760
GENETestsKCNJ3
Target ValidationKCNJ3
Huge Navigator KCNJ3 [HugePedia]
snp3D : Map Gene to Disease3760
BioCentury BCIQKCNJ3
ClinGenKCNJ3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3760
Chemical/Pharm GKB GenePA215
Clinical trialKCNJ3
Miscellaneous
canSAR (ICR)KCNJ3 (select the gene name)
Probes
Litterature
PubMed46 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKCNJ3
EVEXKCNJ3
GoPubMedKCNJ3
iHOPKCNJ3
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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