Atlas of Genetics and Cytogenetics in Oncology and Haematology


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KCNJ5 (potassium inwardly-rectifying channel, subfamily J, member 5)

Identity

Other namesCIR
GIRK4
KATP1
KIR3.4
LQT13
HGNC (Hugo) KCNJ5
LocusID (NCBI) 3762
Location 11q24.3
Location_base_pair Starts at 128761313 and ends at 128787951 bp from pter ( according to hg19-Feb_2009)
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)KCNJ5   6266
Cards
Entrez_Gene (NCBI)KCNJ5  3762  potassium inwardly-rectifying channel, subfamily J, member 5
GeneCards (Weizmann)KCNJ5
Ensembl hg19 (Hinxton) [Gene_View]  chr11:128761313-128787951 [Contig_View]  KCNJ5 [Vega]
Ensembl hg38 (Hinxton) [Gene_View]  chr11:128761313-128787951 [Contig_View]  KCNJ5 [Vega]
cBioPortalKCNJ5
AceView (NCBI)KCNJ5
Genatlas (Paris)KCNJ5
WikiGenes3762
SOURCE (Princeton)KCNJ5
Genomic and cartography
GoldenPath hg19 (UCSC)KCNJ5  -     chr11:128761313-128787951 +  11q24.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)KCNJ5  -     11q24.3   [Description]    (hg38-Dec_2013)
EnsemblKCNJ5 - 11q24.3 [CytoView hg19]  KCNJ5 - 11q24.3 [CytoView hg38]
Mapping of homologs : NCBIKCNJ5 [Mapview hg19]  KCNJ5 [Mapview hg38]
OMIM600734   613485   613677   
Gene and transcription
Genbank (Entrez)AB690268 AK312837 BC069386 BC069482 BC069499
RefSeq transcript (Entrez)NM_000890
RefSeq genomic (Entrez)AC_000143 NC_000011 NC_018922 NG_023406 NT_033899 NW_001838044 NW_004929381
Consensus coding sequences : CCDS (NCBI)KCNJ5
Cluster EST : UnigeneHs.632109 [ NCBI ]
CGAP (NCI)Hs.632109
Alternative Splicing : Fast-db (Paris)GSHG0005398
Gene ExpressionKCNJ5 [ NCBI-GEO ]     KCNJ5 [ SEEK ]   KCNJ5 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP48544 (Uniprot)
NextProtP48544  [Medical]
With graphics : InterProP48544
Splice isoforms : SwissVarP48544 (Swissvar)
Domains : Interpro (EBI)Ig_E-set    K_chnl_inward-rec_Kir    K_chnl_inward-rec_Kir3.4    K_chnl_inward-rec_Kir_cyto   
Related proteins : CluSTrP48544
Domain families : Pfam (Sanger)IRK (PF01007)   
Domain families : Pfam (NCBI)pfam01007   
DMDM Disease mutations3762
Blocks (Seattle)P48544
Peptide AtlasP48544
HPRD09010
IPIIPI00298865   IPI00985408   IPI00981047   
Protein Interaction databases
DIP (DOE-UCLA)P48544
IntAct (EBI)P48544
BioGRIDKCNJ5
IntegromeDBKCNJ5
STRING (EMBL)KCNJ5
Ontologies - Pathways
QuickGOP48544
Ontology : AmiGOinward rectifier potassium channel activity  protein binding  plasma membrane  potassium ion transport  synaptic transmission  voltage-gated potassium channel complex  G-protein activated inward rectifier potassium channel activity  regulation of ion transmembrane transport  potassium ion transmembrane transport  potassium ion transmembrane transport  potassium ion transmembrane transport  
Ontology : EGO-EBIinward rectifier potassium channel activity  protein binding  plasma membrane  potassium ion transport  synaptic transmission  voltage-gated potassium channel complex  G-protein activated inward rectifier potassium channel activity  regulation of ion transmembrane transport  potassium ion transmembrane transport  potassium ion transmembrane transport  potassium ion transmembrane transport  
Pathways : KEGGCircadian entrainment    Retrograde endocannabinoid signaling    Serotonergic synapse    Dopaminergic synapse    Estrogen signaling pathway    Morphine addiction   
Protein Interaction DatabaseKCNJ5
DoCM (Curated mutations)KCNJ5
Wikipedia pathwaysKCNJ5
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerKCNJ5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KCNJ5
dbVarKCNJ5
ClinVarKCNJ5
1000_GenomesKCNJ5 
Exome Variant ServerKCNJ5
SNP (GeneSNP Utah)KCNJ5
SNP : HGBaseKCNJ5
Genetic variants : HAPMAPKCNJ5
Genomic VariantsKCNJ5  KCNJ5 [DGVbeta]
Mutations
Cancer Gene: CensusKCNJ5 
Somatic Mutations in Cancer : COSMICKCNJ5 
CONAN: Copy Number AnalysisKCNJ5 
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)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)11:128761313-128787951
Mutations and Diseases : HGMDKCNJ5
OMIM600734    613485    613677   
MedgenKCNJ5
NextProtP48544 [Medical]
GENETestsKCNJ5
Disease Genetic AssociationKCNJ5
Huge Navigator KCNJ5 [HugePedia]  KCNJ5 [HugeCancerGEM]
snp3D : Map Gene to Disease3762
DGIdb (Drug Gene Interaction db)KCNJ5
General knowledge
Homologs : HomoloGeneKCNJ5
Homology/Alignments : Family Browser (UCSC)KCNJ5
Phylogenetic Trees/Animal Genes : TreeFamKCNJ5
Chemical/Protein Interactions : CTD3762
Chemical/Pharm GKB GenePA216
Clinical trialKCNJ5
Other databases
Probes
Litterature
PubMed70 Pubmed reference(s) in Entrez
CoreMineKCNJ5
GoPubMedKCNJ5
iHOPKCNJ5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Dec 20 22:15:33 CET 2014

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