Atlas of Genetics and Cytogenetics in Oncology and Haematology


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KCNJ12 (potassium voltage-gated channel subfamily J member 12)

Identity

Alias_namesKCNJN1
potassium inwardly-rectifying channel, subfamily J, inhibitor 1
potassium inwardly-rectifying channel, subfamily J, member 12
Alias_symbol (synonym)Kir2.2
Kir2.2v
IRK2
hIRK1
Other aliasIRK-2
hIRK
hkir2.2x
kcnj12x
HGNC (Hugo) KCNJ12
LocusID (NCBI) 3768
Atlas_Id 41049
Location 17p11.2  [Link to chromosome band 17p11]
Location_base_pair Starts at 21376387 and ends at 21419867 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
EPN2 (17p11.2) / KCNJ12 (17p11.2)HIPK2 (7q34) / KCNJ12 (17p11.2)MMP28 (17q12) / KCNJ12 (17p11.2)
EPN2 17p11.2 / KCNJ12 17p11.2MMP28 17q12 / KCNJ12 17p11.2

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)KCNJ12   6258
Cards
Entrez_Gene (NCBI)KCNJ12  3768  potassium voltage-gated channel subfamily J member 12
AliasesIRK-2; IRK2; KCNJN1; Kir2.2; 
Kir2.2v; hIRK; hIRK1; hkir2.2x; kcnj12x
GeneCards (Weizmann)KCNJ12
Ensembl hg19 (Hinxton)ENSG00000184185 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000184185 [Gene_View]  chr17:21376387-21419867 [Contig_View]  KCNJ12 [Vega]
ICGC DataPortalENSG00000184185
TCGA cBioPortalKCNJ12
AceView (NCBI)KCNJ12
Genatlas (Paris)KCNJ12
WikiGenes3768
SOURCE (Princeton)KCNJ12
Genetics Home Reference (NIH)KCNJ12
Genomic and cartography
GoldenPath hg38 (UCSC)KCNJ12  -     chr17:21376387-21419867 +  17p11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KCNJ12  -     17p11.2   [Description]    (hg19-Feb_2009)
EnsemblKCNJ12 - 17p11.2 [CytoView hg19]  KCNJ12 - 17p11.2 [CytoView hg38]
Mapping of homologs : NCBIKCNJ12 [Mapview hg19]  KCNJ12 [Mapview hg38]
OMIM602323   
Gene and transcription
Genbank (Entrez)AB182123 AF005214 AK024229 BC027982 BM799671
RefSeq transcript (Entrez)NM_021012
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KCNJ12
Cluster EST : UnigeneHs.200629 [ NCBI ]
CGAP (NCI)Hs.200629
Alternative Splicing GalleryENSG00000184185
Gene ExpressionKCNJ12 [ NCBI-GEO ]   KCNJ12 [ EBI - ARRAY_EXPRESS ]   KCNJ12 [ SEEK ]   KCNJ12 [ MEM ]
Gene Expression Viewer (FireBrowse)KCNJ12 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3768
GTEX Portal (Tissue expression)KCNJ12
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ14500   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ14500  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ14500
Splice isoforms : SwissVarQ14500
PhosPhoSitePlusQ14500
Domains : Interpro (EBI)Ig_E-set    K_chnl_inward-rec_Kir    K_chnl_inward-rec_Kir2.2    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)KCNJ12
DMDM Disease mutations3768
Blocks (Seattle)KCNJ12
SuperfamilyQ14500
Human Protein AtlasENSG00000184185
Peptide AtlasQ14500
HPRD09083
IPIIPI00450699   IPI00979638   
Protein Interaction databases
DIP (DOE-UCLA)Q14500
IntAct (EBI)Q14500
FunCoupENSG00000184185
BioGRIDKCNJ12
STRING (EMBL)KCNJ12
ZODIACKCNJ12
Ontologies - Pathways
QuickGOQ14500
Ontology : AmiGOinward rectifier potassium channel activity  plasma membrane  integral component of plasma membrane  potassium ion transport  muscle contraction  regulation of heart contraction  potassium ion import  G-protein activated inward rectifier potassium channel activity  intrinsic component of membrane  regulation of ion transmembrane transport  protein homotetramerization  cardiac conduction  
Ontology : EGO-EBIinward rectifier potassium channel activity  plasma membrane  integral component of plasma membrane  potassium ion transport  muscle contraction  regulation of heart contraction  potassium ion import  G-protein activated inward rectifier potassium channel activity  intrinsic component of membrane  regulation of ion transmembrane transport  protein homotetramerization  cardiac conduction  
Pathways : KEGGCholinergic synapse   
NDEx NetworkKCNJ12
Atlas of Cancer Signalling NetworkKCNJ12
Wikipedia pathwaysKCNJ12
Orthology - Evolution
OrthoDB3768
GeneTree (enSembl)ENSG00000184185
Phylogenetic Trees/Animal Genes : TreeFamKCNJ12
HOVERGENQ14500
HOGENOMQ14500
Homologs : HomoloGeneKCNJ12
Homology/Alignments : Family Browser (UCSC)KCNJ12
Gene fusions - Rearrangements
Fusion : MitelmanEPN2/KCNJ12 [17p11.2/17p11.2]  [t(17;17)(p11;p11)]  
Fusion : MitelmanMMP28/KCNJ12 [17q12/17p11.2]  [t(17;17)(p11;q12)]  
Fusion: TCGAEPN2 17p11.2 KCNJ12 17p11.2 BLCA
Fusion: TCGAMMP28 17q12 KCNJ12 17p11.2 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKCNJ12 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KCNJ12
dbVarKCNJ12
ClinVarKCNJ12
1000_GenomesKCNJ12 
Exome Variant ServerKCNJ12
ExAC (Exome Aggregation Consortium)KCNJ12 (select the gene name)
Genetic variants : HAPMAP3768
Genomic Variants (DGV)KCNJ12 [DGVbeta]
DECIPHERKCNJ12 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKCNJ12 
Mutations
ICGC Data PortalKCNJ12 
TCGA Data PortalKCNJ12 
Broad Tumor PortalKCNJ12
OASIS PortalKCNJ12 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKCNJ12  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKCNJ12
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 KCNJ12
DgiDB (Drug Gene Interaction Database)KCNJ12
DoCM (Curated mutations)KCNJ12 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KCNJ12 (select a term)
intoGenKCNJ12
Cancer3DKCNJ12(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602323   
Orphanet
MedgenKCNJ12
Genetic Testing Registry KCNJ12
NextProtQ14500 [Medical]
TSGene3768
GENETestsKCNJ12
Huge Navigator KCNJ12 [HugePedia]
snp3D : Map Gene to Disease3768
BioCentury BCIQKCNJ12
ClinGenKCNJ12
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3768
Chemical/Pharm GKB GenePA218
Clinical trialKCNJ12
Miscellaneous
canSAR (ICR)KCNJ12 (select the gene name)
Probes
Litterature
PubMed35 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKCNJ12
EVEXKCNJ12
GoPubMedKCNJ12
iHOPKCNJ12
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 12:21:12 CEST 2017

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