Atlas of Genetics and Cytogenetics in Oncology and Haematology


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KCNE2 (potassium voltage-gated channel subfamily E regulatory subunit 2)

Identity

Other namesATFB4
LQT5
LQT6
MIRP1
HGNC (Hugo) KCNE2
LocusID (NCBI) 9992
Atlas_Id 51948
Location 21q22.11
Location_base_pair Starts at 35736323 and ends at 35743440 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
KCNE2 (21q22.11) / HTN3 (4q13.3)KCNE2 21q22.11 / HTN3 4q13.3

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)KCNE2   6242
Cards
Entrez_Gene (NCBI)KCNE2  9992  potassium voltage-gated channel subfamily E regulatory subunit 2
AliasesATFB4; LQT5; LQT6; MIRP1
GeneCards (Weizmann)KCNE2
Ensembl hg19 (Hinxton)ENSG00000159197 [Gene_View]  chr21:35736323-35743440 [Contig_View]  KCNE2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000159197 [Gene_View]  chr21:35736323-35743440 [Contig_View]  KCNE2 [Vega]
ICGC DataPortalENSG00000159197
TCGA cBioPortalKCNE2
AceView (NCBI)KCNE2
Genatlas (Paris)KCNE2
WikiGenes9992
SOURCE (Princeton)KCNE2
Genomic and cartography
GoldenPath hg19 (UCSC)KCNE2  -     chr21:35736323-35743440 +  21q22.11   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)KCNE2  -     21q22.11   [Description]    (hg38-Dec_2013)
EnsemblKCNE2 - 21q22.11 [CytoView hg19]  KCNE2 - 21q22.11 [CytoView hg38]
Mapping of homologs : NCBIKCNE2 [Mapview hg19]  KCNE2 [Mapview hg38]
OMIM603796   611493   613693   
Gene and transcription
Genbank (Entrez)AF071002 AF086086 AF302095 BC093892 BC112087
RefSeq transcript (Entrez)NM_172201
RefSeq genomic (Entrez)NC_000021 NC_018932 NG_008804 NT_011512 NW_004929426
Consensus coding sequences : CCDS (NCBI)KCNE2
Cluster EST : UnigeneHs.736062 [ NCBI ]
CGAP (NCI)Hs.736062
Alternative Splicing GalleryENSG00000159197
Gene ExpressionKCNE2 [ NCBI-GEO ]   KCNE2 [ EBI - ARRAY_EXPRESS ]   KCNE2 [ SEEK ]   KCNE2 [ MEM ]
Gene Expression Viewer (FireBrowse)KCNE2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9992
GTEX Portal (Tissue expression)KCNE2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y6J6 (Uniprot)
NextProtQ9Y6J6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y6J6
Splice isoforms : SwissVarQ9Y6J6 (Swissvar)
PhosPhoSitePlusQ9Y6J6
Domains : Interpro (EBI)K_chnl_KCNE    K_chnl_volt-dep_bsu_KCNE2   
Domain families : Pfam (Sanger)ISK_Channel (PF02060)   
Domain families : Pfam (NCBI)pfam02060   
DMDM Disease mutations9992
Blocks (Seattle)KCNE2
PDB (SRS)2M0Q   
PDB (PDBSum)2M0Q   
PDB (IMB)2M0Q   
PDB (RSDB)2M0Q   
Structural Biology KnowledgeBase2M0Q   
SCOP (Structural Classification of Proteins)2M0Q   
CATH (Classification of proteins structures)2M0Q   
SuperfamilyQ9Y6J6
Human Protein AtlasENSG00000159197
Peptide AtlasQ9Y6J6
HPRD04813
IPIIPI00002366   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y6J6
IntAct (EBI)Q9Y6J6
FunCoupENSG00000159197
BioGRIDKCNE2
STRING (EMBL)KCNE2
ZODIACKCNE2
Ontologies - Pathways
QuickGOQ9Y6J6
Ontology : AmiGOinward rectifier potassium channel activity  delayed rectifier potassium channel activity  protein binding  lysosome  plasma membrane  plasma membrane  aging  voltage-gated potassium channel complex  voltage-gated potassium channel complex  cell surface  potassium ion import  potassium channel regulator activity  cellular response to drug  protein homodimerization activity  tongue development  ion channel binding  regulation of membrane repolarization  regulation of ventricular cardiac muscle cell membrane repolarization  cardiac conduction  potassium ion export  potassium ion transmembrane transport  cardiac muscle cell action potential involved in contraction  ventricular cardiac muscle cell action potential  membrane repolarization  membrane repolarization during action potential  regulation of heart rate by cardiac conduction  membrane repolarization during ventricular cardiac muscle cell action potential  regulation of potassium ion transmembrane transport  positive regulation of voltage-gated calcium channel activity  positive regulation of proteasomal protein catabolic process  regulation of inward rectifier potassium channel activity  regulation of cyclic nucleotide-gated ion channel activity  regulation of delayed rectifier potassium channel activity  negative regulation of delayed rectifier potassium channel activity  voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization  
Ontology : EGO-EBIinward rectifier potassium channel activity  delayed rectifier potassium channel activity  protein binding  lysosome  plasma membrane  plasma membrane  aging  voltage-gated potassium channel complex  voltage-gated potassium channel complex  cell surface  potassium ion import  potassium channel regulator activity  cellular response to drug  protein homodimerization activity  tongue development  ion channel binding  regulation of membrane repolarization  regulation of ventricular cardiac muscle cell membrane repolarization  cardiac conduction  potassium ion export  potassium ion transmembrane transport  cardiac muscle cell action potential involved in contraction  ventricular cardiac muscle cell action potential  membrane repolarization  membrane repolarization during action potential  regulation of heart rate by cardiac conduction  membrane repolarization during ventricular cardiac muscle cell action potential  regulation of potassium ion transmembrane transport  positive regulation of voltage-gated calcium channel activity  positive regulation of proteasomal protein catabolic process  regulation of inward rectifier potassium channel activity  regulation of cyclic nucleotide-gated ion channel activity  regulation of delayed rectifier potassium channel activity  negative regulation of delayed rectifier potassium channel activity  voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization  
Pathways : KEGGGastric acid secretion   
NDEx Network
Atlas of Cancer Signalling NetworkKCNE2
Wikipedia pathwaysKCNE2
Orthology - Evolution
OrthoDB9992
GeneTree (enSembl)ENSG00000159197
Phylogenetic Trees/Animal Genes : TreeFamKCNE2
Homologs : HomoloGeneKCNE2
Homology/Alignments : Family Browser (UCSC)KCNE2
Gene fusions - Rearrangements
Fusion: TCGAKCNE2 21q22.11 HTN3 4q13.3 BRCA
Polymorphisms : SNP, variants
NCBI Variation ViewerKCNE2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KCNE2
dbVarKCNE2
ClinVarKCNE2
1000_GenomesKCNE2 
Exome Variant ServerKCNE2
ExAC (Exome Aggregation Consortium)KCNE2 (select the gene name)
Genetic variants : HAPMAP9992
Genomic Variants (DGV)KCNE2 [DGVbeta]
Mutations
ICGC Data PortalKCNE2 
TCGA Data PortalKCNE2 
Broad Tumor PortalKCNE2
OASIS PortalKCNE2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKCNE2 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
BioMutasearch KCNE2
DgiDB (Drug Gene Interaction Database)KCNE2
DoCM (Curated mutations)KCNE2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KCNE2 (select a term)
intoGenKCNE2
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)21:35736323-35743440  ENSG00000159197
CONAN: Copy Number AnalysisKCNE2 
Mutations and Diseases : HGMDKCNE2
OMIM603796    611493    613693   
MedgenKCNE2
Genetic Testing Registry KCNE2
NextProtQ9Y6J6 [Medical]
TSGene9992
GENETestsKCNE2
Huge Navigator KCNE2 [HugePedia]
snp3D : Map Gene to Disease9992
BioCentury BCIQKCNE2
ClinGenKCNE2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9992
Chemical/Pharm GKB GenePA392
Clinical trialKCNE2
Miscellaneous
canSAR (ICR)KCNE2 (select the gene name)
Probes
Litterature
PubMed80 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKCNE2
EVEXKCNE2
GoPubMedKCNE2
iHOPKCNE2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat May 28 11:07:32 CEST 2016

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