Atlas of Genetics and Cytogenetics in Oncology and Haematology


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

Identity

Alias (NCBI)ATFB4
LQT5
LQT6
MIRP1
HGNC (Hugo) KCNE2
HGNC Alias symbMiRP1
LQT6
HGNC Previous namepotassium voltage-gated channel, Isk-related family, member 2
 potassium channel, voltage gated subfamily E regulatory beta subunit 2
LocusID (NCBI) 9992
Atlas_Id 51948
Location 21q22.11  [Link to chromosome band 21q22]
Location_base_pair Starts at 34364024 and ends at 34371141 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)
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

 



Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(21;21)(q22;q22) ITSN1/KCNE2


External links

 

Nomenclature
HGNC (Hugo)KCNE2   6242
LRG (Locus Reference Genomic)LRG_291
Cards
Entrez_Gene (NCBI)KCNE2    potassium voltage-gated channel subfamily E regulatory subunit 2
AliasesATFB4; LQT5; LQT6; MIRP1
GeneCards (Weizmann)KCNE2
Ensembl hg19 (Hinxton)ENSG00000159197 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000159197 [Gene_View]  ENSG00000159197 [Sequence]  chr21:34364024-34371141 [Contig_View]  KCNE2 [Vega]
ICGC DataPortalENSG00000159197
TCGA cBioPortalKCNE2
AceView (NCBI)KCNE2
Genatlas (Paris)KCNE2
SOURCE (Princeton)KCNE2
Genetics Home Reference (NIH)KCNE2
Genomic and cartography
GoldenPath hg38 (UCSC)KCNE2  -     chr21:34364024-34371141 +  21q22.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KCNE2  -     21q22.11   [Description]    (hg19-Feb_2009)
GoldenPathKCNE2 - 21q22.11 [CytoView hg19]  KCNE2 - 21q22.11 [CytoView hg38]
ImmunoBaseENSG00000159197
Genome Data Viewer NCBIKCNE2 [Mapview hg19]  
OMIM603796   611493   613693   
Gene and transcription
Genbank (Entrez)AF071002 AF086086 AF302095 BC093892 BC112087
RefSeq transcript (Entrez)NM_172201
Consensus coding sequences : CCDS (NCBI)KCNE2
Gene ExpressionKCNE2 [ NCBI-GEO ]   KCNE2 [ EBI - ARRAY_EXPRESS ]   KCNE2 [ SEEK ]   KCNE2 [ MEM ]
Gene Expression Viewer (FireBrowse)KCNE2 [ Firebrowse - Broad ]
GenevisibleExpression of KCNE2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9992
GTEX Portal (Tissue expression)KCNE2
Human Protein AtlasENSG00000159197-KCNE2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y6J6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y6J6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y6J6
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   
Conserved Domain (NCBI)KCNE2
PDB (RSDB)2M0Q   
PDB Europe2M0Q   
PDB (PDBSum)2M0Q   
PDB (IMB)2M0Q   
Structural Biology KnowledgeBase2M0Q   
SCOP (Structural Classification of Proteins)2M0Q   
CATH (Classification of proteins structures)2M0Q   
SuperfamilyQ9Y6J6
AlphaFold pdb e-kbQ9Y6J6   
Human Protein Atlas [tissue]ENSG00000159197-KCNE2 [tissue]
HPRD04813
Protein Interaction databases
DIP (DOE-UCLA)Q9Y6J6
IntAct (EBI)Q9Y6J6
BioGRIDKCNE2
STRING (EMBL)KCNE2
ZODIACKCNE2
Ontologies - Pathways
QuickGOQ9Y6J6
Ontology : AmiGOinward rectifier potassium channel activity  delayed rectifier potassium channel activity  delayed rectifier potassium channel activity  protein binding  lysosome  endoplasmic reticulum  Golgi apparatus  plasma membrane  plasma membrane  plasma membrane  aging  voltage-gated potassium channel complex  cell surface  potassium channel regulator activity  potassium channel regulator activity  cellular response to drug  identical protein binding  tongue development  ion channel binding  ion channel binding  regulation of membrane repolarization  regulation of ventricular cardiac muscle cell membrane repolarization  regulation of ventricular cardiac muscle cell membrane repolarization  cardiac conduction  potassium ion transmembrane transport  cardiac muscle cell action potential involved in contraction  ventricular cardiac muscle cell action potential  ventricular cardiac muscle cell action potential  membrane repolarization  membrane repolarization during action potential  membrane repolarization during action potential  regulation of heart rate by cardiac conduction  regulation of heart rate by cardiac conduction  potassium ion export across plasma membrane  potassium ion export across plasma membrane  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  negative regulation of delayed rectifier potassium channel activity  voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization  potassium ion import across plasma membrane  
Ontology : EGO-EBIinward rectifier potassium channel activity  delayed rectifier potassium channel activity  delayed rectifier potassium channel activity  protein binding  lysosome  endoplasmic reticulum  Golgi apparatus  plasma membrane  plasma membrane  plasma membrane  aging  voltage-gated potassium channel complex  cell surface  potassium channel regulator activity  potassium channel regulator activity  cellular response to drug  identical protein binding  tongue development  ion channel binding  ion channel binding  regulation of membrane repolarization  regulation of ventricular cardiac muscle cell membrane repolarization  regulation of ventricular cardiac muscle cell membrane repolarization  cardiac conduction  potassium ion transmembrane transport  cardiac muscle cell action potential involved in contraction  ventricular cardiac muscle cell action potential  ventricular cardiac muscle cell action potential  membrane repolarization  membrane repolarization during action potential  membrane repolarization during action potential  regulation of heart rate by cardiac conduction  regulation of heart rate by cardiac conduction  potassium ion export across plasma membrane  potassium ion export across plasma membrane  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  negative regulation of delayed rectifier potassium channel activity  voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization  potassium ion import across plasma membrane  
Pathways : KEGGGastric acid secretion   
NDEx NetworkKCNE2
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 : MitelmanKCNE2/HTN3 [21q22.11/4q13.3]  
Fusion : QuiverKCNE2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKCNE2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KCNE2
dbVarKCNE2
ClinVarKCNE2
MonarchKCNE2
1000_GenomesKCNE2 
Exome Variant ServerKCNE2
GNOMAD BrowserENSG00000159197
Varsome BrowserKCNE2
ACMGKCNE2 variants
VarityQ9Y6J6
Genomic Variants (DGV)KCNE2 [DGVbeta]
DECIPHERKCNE2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKCNE2 
Mutations
ICGC Data PortalKCNE2 
TCGA Data PortalKCNE2 
Broad Tumor PortalKCNE2
OASIS PortalKCNE2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKCNE2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DKCNE2
Mutations and Diseases : HGMDKCNE2
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaKCNE2
DgiDB (Drug Gene Interaction Database)KCNE2
DoCM (Curated mutations)KCNE2
CIViC (Clinical Interpretations of Variants in Cancer)KCNE2
Cancer3DKCNE2
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603796    611493    613693   
Orphanet8592    14727   
DisGeNETKCNE2
MedgenKCNE2
Genetic Testing Registry KCNE2
NextProtQ9Y6J6 [Medical]
GENETestsKCNE2
Target ValidationKCNE2
Huge Navigator KCNE2 [HugePedia]
ClinGenKCNE2
Clinical trials, drugs, therapy
MyCancerGenomeKCNE2
Protein Interactions : CTDKCNE2
Pharm GKB GenePA392
PharosQ9Y6J6
Clinical trialKCNE2
Miscellaneous
canSAR (ICR)KCNE2
HarmonizomeKCNE2
DataMed IndexKCNE2
Probes
Litterature
PubMed88 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXKCNE2
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 : Mon Oct 4 15:14:38 CEST 2021

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