Atlas of Genetics and Cytogenetics in Oncology and Haematology


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KCNE2 (potassium channel, voltage gated subfamily E regulatory beta 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)

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 channel, voltage gated subfamily E regulatory beta subunit 2
GeneCards (Weizmann)KCNE2
Ensembl hg19 (Hinxton) [Gene_View]  chr21:35736323-35743440 [Contig_View]  KCNE2 [Vega]
Ensembl hg38 (Hinxton) [Gene_View]  chr21:35736323-35743440 [Contig_View]  KCNE2 [Vega]
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 : Fast-db (Paris)GSHG0019443
Gene ExpressionKCNE2 [ NCBI-GEO ]     KCNE2 [ SEEK ]   KCNE2 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y6J6 (Uniprot)
NextProtQ9Y6J6  [Medical]  [Publications]
With graphics : InterProQ9Y6J6
Splice isoforms : SwissVarQ9Y6J6 (Swissvar)
Domains : Interpro (EBI)K_chnl_volt-dep_bsu_KCNE    K_chnl_volt-dep_bsu_KCNE1    K_chnl_volt-dep_bsu_KCNE2   
Related proteins : CluSTrQ9Y6J6
Domain families : Pfam (Sanger)ISK_Channel (PF02060)   
Domain families : Pfam (NCBI)pfam02060   
DMDM Disease mutations9992
Blocks (Seattle)Q9Y6J6
PDB (SRS)2M0Q   
PDB (PDBSum)2M0Q   
PDB (IMB)2M0Q   
PDB (RSDB)2M0Q   
Peptide AtlasQ9Y6J6
HPRD04813
IPIIPI00002366   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y6J6
IntAct (EBI)Q9Y6J6
BioGRIDKCNE2
IntegromeDBKCNE2
STRING (EMBL)KCNE2
Ontologies - Pathways
QuickGOQ9Y6J6
Ontology : AmiGOinward rectifier potassium channel activity  delayed rectifier potassium channel activity  lysosome  plasma membrane  aging  voltage-gated potassium channel complex  cell surface  potassium ion import  potassium channel regulator activity  cellular protein localization  cellular response to drug  protein homodimerization activity  tongue development  ion channel binding  regulation of membrane repolarization  regulation of ventricular cardiac muscle cell membrane repolarization  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  regulation of potassium ion transmembrane transport  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  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  lysosome  plasma membrane  aging  voltage-gated potassium channel complex  cell surface  potassium ion import  potassium channel regulator activity  cellular protein localization  cellular response to drug  protein homodimerization activity  tongue development  ion channel binding  regulation of membrane repolarization  regulation of ventricular cardiac muscle cell membrane repolarization  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  regulation of potassium ion transmembrane transport  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  voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization  
Pathways : KEGGGastric acid secretion   
Protein Interaction DatabaseKCNE2
DoCM (Curated mutations)KCNE2
Wikipedia pathwaysKCNE2
Gene fusion - Rearrangements
Gene fusion: TCGA
Polymorphisms : SNP, variants
NCBI Variation ViewerKCNE2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KCNE2
dbVarKCNE2
ClinVarKCNE2
1000_GenomesKCNE2 
Exome Variant ServerKCNE2
SNP (GeneSNP Utah)KCNE2
SNP : HGBaseKCNE2
Genetic variants : HAPMAPKCNE2
Genomic Variants (DGV)KCNE2 [DGVbeta]
Mutations
ICGC Data PortalKCNE2 
TCGA Data PortalKCNE2 
Tumor PortalKCNE2
Somatic Mutations in Cancer : COSMICKCNE2 
LOVD (Leiden Open Variation Database)genes/KCNE2
LOVD (Leiden Open Variation Database)genes/KCNE2
LOVD (Leiden Open Variation Database)genes/KCNE2
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)21:35736323-35743440
CONAN: Copy Number AnalysisKCNE2 
Mutations and Diseases : HGMDKCNE2
OMIM603796    611493    613693   
MedgenKCNE2
NextProtQ9Y6J6 [Medical]
GENETestsKCNE2
Disease Genetic AssociationKCNE2
Huge Navigator KCNE2 [HugePedia]  KCNE2 [HugeCancerGEM]
snp3D : Map Gene to Disease9992
DGIdb (Drug Gene Interaction db)KCNE2
BioCentury BCIQKCNE2
General knowledge
Homologs : HomoloGeneKCNE2
Homology/Alignments : Family Browser (UCSC)KCNE2
Phylogenetic Trees/Animal Genes : TreeFamKCNE2
Chemical/Protein Interactions : CTD9992
Chemical/Pharm GKB GenePA392
Clinical trialKCNE2
Other databases
Probes
Litterature
PubMed77 Pubmed reference(s) in Entrez
CoreMineKCNE2
GoPubMedKCNE2
iHOPKCNE2
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
Updated02-2015Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri May 29 18:43:19 CEST 2015

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