Atlas of Genetics and Cytogenetics in Oncology and Haematology


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KCNH6 (potassium voltage-gated channel subfamily H member 6)

Identity

Alias_namespotassium voltage-gated channel
Alias_symbol (synonym)Kv11.2
erg2
HERG2
Other aliasERG-2
ERG2
hERG-2
HGNC (Hugo) KCNH6
LocusID (NCBI) 81033
Atlas_Id 53998
Location 17q23.3  [Link to chromosome band 17q23]
Location_base_pair Starts at 63523334 and ends at 63546728 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)
KCNH6 (17q23.3) / ACE (17q23.3)

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)KCNH6   18862
Cards
Entrez_Gene (NCBI)KCNH6  81033  potassium voltage-gated channel subfamily H member 6
AliasesERG-2; ERG2; HERG2; Kv11.2; 
hERG-2
GeneCards (Weizmann)KCNH6
Ensembl hg19 (Hinxton)ENSG00000173826 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000173826 [Gene_View]  chr17:63523334-63546728 [Contig_View]  KCNH6 [Vega]
ICGC DataPortalENSG00000173826
TCGA cBioPortalKCNH6
AceView (NCBI)KCNH6
Genatlas (Paris)KCNH6
WikiGenes81033
SOURCE (Princeton)KCNH6
Genetics Home Reference (NIH)KCNH6
Genomic and cartography
GoldenPath hg38 (UCSC)KCNH6  -     chr17:63523334-63546728 +  17q23.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KCNH6  -     17q23.3   [Description]    (hg19-Feb_2009)
EnsemblKCNH6 - 17q23.3 [CytoView hg19]  KCNH6 - 17q23.3 [CytoView hg38]
Mapping of homologs : NCBIKCNH6 [Mapview hg19]  KCNH6 [Mapview hg38]
OMIM608168   
Gene and transcription
Genbank (Entrez)AA825356 AF311913 AK090969 AK091877 AK296498
RefSeq transcript (Entrez)NM_001278919 NM_001278920 NM_030779 NM_173092
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KCNH6
Cluster EST : UnigeneHs.591177 [ NCBI ]
CGAP (NCI)Hs.591177
Alternative Splicing GalleryENSG00000173826
Gene ExpressionKCNH6 [ NCBI-GEO ]   KCNH6 [ EBI - ARRAY_EXPRESS ]   KCNH6 [ SEEK ]   KCNH6 [ MEM ]
Gene Expression Viewer (FireBrowse)KCNH6 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)81033
GTEX Portal (Tissue expression)KCNH6
Human Protein AtlasENSG00000173826-KCNH6 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H252   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H252  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H252
Splice isoforms : SwissVarQ9H252
PhosPhoSitePlusQ9H252
Domaine pattern : Prosite (Expaxy)CNMP_BINDING_3 (PS50042)   
Domains : Interpro (EBI)cNMP-bd-like    cNMP-bd_dom    Ion_trans_dom    K_chnl_volt-dep_EAG/ELK/ERG    K_chnl_volt-dep_ERG    KCNH6    PAS    RmlC-like_jellyroll   
Domain families : Pfam (Sanger)cNMP_binding (PF00027)    Ion_trans (PF00520)    PAS_9 (PF13426)   
Domain families : Pfam (NCBI)pfam00027    pfam00520    pfam13426   
Domain families : Smart (EMBL)cNMP (SM00100)  
Conserved Domain (NCBI)KCNH6
DMDM Disease mutations81033
Blocks (Seattle)KCNH6
SuperfamilyQ9H252
Human Protein Atlas [tissue]ENSG00000173826-KCNH6 [tissue]
Peptide AtlasQ9H252
HPRD16294
IPIIPI00006515   IPI00216624   IPI00216625   
Protein Interaction databases
DIP (DOE-UCLA)Q9H252
IntAct (EBI)Q9H252
FunCoupENSG00000173826
BioGRIDKCNH6
STRING (EMBL)KCNH6
ZODIACKCNH6
Ontologies - Pathways
QuickGOQ9H252
Ontology : AmiGOvoltage-gated potassium channel activity  plasma membrane  integral component of plasma membrane  regulation of ion transmembrane transport  regulation of membrane potential  potassium ion transmembrane transport  
Ontology : EGO-EBIvoltage-gated potassium channel activity  plasma membrane  integral component of plasma membrane  regulation of ion transmembrane transport  regulation of membrane potential  potassium ion transmembrane transport  
NDEx NetworkKCNH6
Atlas of Cancer Signalling NetworkKCNH6
Wikipedia pathwaysKCNH6
Orthology - Evolution
OrthoDB81033
GeneTree (enSembl)ENSG00000173826
Phylogenetic Trees/Animal Genes : TreeFamKCNH6
HOVERGENQ9H252
HOGENOMQ9H252
Homologs : HomoloGeneKCNH6
Homology/Alignments : Family Browser (UCSC)KCNH6
Gene fusions - Rearrangements
Tumor Fusion PortalKCNH6
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKCNH6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KCNH6
dbVarKCNH6
ClinVarKCNH6
1000_GenomesKCNH6 
Exome Variant ServerKCNH6
ExAC (Exome Aggregation Consortium)ENSG00000173826
GNOMAD BrowserENSG00000173826
Genetic variants : HAPMAP81033
Genomic Variants (DGV)KCNH6 [DGVbeta]
DECIPHERKCNH6 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKCNH6 
Mutations
ICGC Data PortalKCNH6 
TCGA Data PortalKCNH6 
Broad Tumor PortalKCNH6
OASIS PortalKCNH6 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKCNH6  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKCNH6
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 KCNH6
DgiDB (Drug Gene Interaction Database)KCNH6
DoCM (Curated mutations)KCNH6 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KCNH6 (select a term)
intoGenKCNH6
Cancer3DKCNH6(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608168   
Orphanet
DisGeNETKCNH6
MedgenKCNH6
Genetic Testing Registry KCNH6
NextProtQ9H252 [Medical]
TSGene81033
GENETestsKCNH6
Target ValidationKCNH6
Huge Navigator KCNH6 [HugePedia]
snp3D : Map Gene to Disease81033
BioCentury BCIQKCNH6
ClinGenKCNH6
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD81033
Chemical/Pharm GKB GenePA38722
Clinical trialKCNH6
Miscellaneous
canSAR (ICR)KCNH6 (select the gene name)
Probes
Litterature
PubMed12 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKCNH6
EVEXKCNH6
GoPubMedKCNH6
iHOPKCNH6
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 14:18:32 CET 2017

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