Atlas of Genetics and Cytogenetics in Oncology and Haematology

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KCNH4 (potassium voltage-gated channel subfamily H member 4)

Identity

Alias_namespotassium voltage-gated channel, subfamily H (eag-related), member 4
Alias_symbol (synonym)Kv12.3
elk1
Other aliasBEC2
ELK1
HGNC (Hugo) KCNH4
LocusID (NCBI) 23415
Atlas_Id 64781
Location 17q21.2  [Link to chromosome band 17q21]
Location_base_pair Starts at 42156892 and ends at 42181278 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)
PRR15L (17q21.32) / KCNH4 (17q21.2)

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 Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  PRR15L/KCNH4 (17q21)

External links

Nomenclature
HGNC (Hugo)KCNH4   6253
Cards
Entrez_Gene (NCBI)KCNH4  23415  potassium voltage-gated channel subfamily H member 4
AliasesBEC2; ELK1; Kv12.3
GeneCards (Weizmann)KCNH4
Ensembl hg19 (Hinxton)ENSG00000089558 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000089558 [Gene_View]  ENSG00000089558 [Sequence]  chr17:42156892-42181278 [Contig_View]  KCNH4 [Vega]
ICGC DataPortalENSG00000089558
TCGA cBioPortalKCNH4
AceView (NCBI)KCNH4
Genatlas (Paris)KCNH4
WikiGenes23415
SOURCE (Princeton)KCNH4
Genetics Home Reference (NIH)KCNH4
Genomic and cartography
GoldenPath hg38 (UCSC)KCNH4  -     chr17:42156892-42181278 -  17q21.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KCNH4  -     17q21.2   [Description]    (hg19-Feb_2009)
GoldenPathKCNH4 - 17q21.2 [CytoView hg19]  KCNH4 - 17q21.2 [CytoView hg38]
ImmunoBaseENSG00000089558
Mapping of homologs : NCBIKCNH4 [Mapview hg19]  KCNH4 [Mapview hg38]
OMIM604528   
Gene and transcription
Genbank (Entrez)AB022698 AW084816
RefSeq transcript (Entrez)NM_012285
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KCNH4
Alternative Splicing GalleryENSG00000089558
Gene ExpressionKCNH4 [ NCBI-GEO ]   KCNH4 [ EBI - ARRAY_EXPRESS ]   KCNH4 [ SEEK ]   KCNH4 [ MEM ]
Gene Expression Viewer (FireBrowse)KCNH4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23415
GTEX Portal (Tissue expression)KCNH4
Human Protein AtlasENSG00000089558-KCNH4 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UQ05   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UQ05  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UQ05
Splice isoforms : SwissVarQ9UQ05
PhosPhoSitePlusQ9UQ05
Domaine pattern : Prosite (Expaxy)CNMP_BINDING_3 (PS50042)    PAC (PS50113)    PAS (PS50112)   
Domains : Interpro (EBI)cNMP-bd-like    cNMP-bd_dom    Ion_trans_dom    K_chnl_volt-dep_EAG/ELK/ERG    K_chnl_volt-dep_ELK    PAC    PAS    PAS-assoc_C    PAS-like_dom_sf    RmlC-like_jellyroll    Volt_channel_dom_sf   
Domain families : Pfam (Sanger)Ion_trans (PF00520)    PAS_9 (PF13426)   
Domain families : Pfam (NCBI)pfam00520    pfam13426   
Domain families : Smart (EMBL)cNMP (SM00100)  PAC (SM00086)  
Conserved Domain (NCBI)KCNH4
DMDM Disease mutations23415
Blocks (Seattle)KCNH4
SuperfamilyQ9UQ05
Human Protein Atlas [tissue]ENSG00000089558-KCNH4 [tissue]
Peptide AtlasQ9UQ05
HPRD05165
IPIIPI00017522   
Protein Interaction databases
DIP (DOE-UCLA)Q9UQ05
IntAct (EBI)Q9UQ05
FunCoupENSG00000089558
BioGRIDKCNH4
STRING (EMBL)KCNH4
ZODIACKCNH4
Ontologies - Pathways
QuickGOQ9UQ05
Ontology : AmiGOvoltage-gated potassium channel activity  plasma membrane  integral component of plasma membrane  potassium ion transport  voltage-gated potassium channel complex  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  potassium ion transport  voltage-gated potassium channel complex  regulation of ion transmembrane transport  regulation of membrane potential  potassium ion transmembrane transport  
NDEx NetworkKCNH4
Atlas of Cancer Signalling NetworkKCNH4
Wikipedia pathwaysKCNH4
Orthology - Evolution
OrthoDB23415
GeneTree (enSembl)ENSG00000089558
Phylogenetic Trees/Animal Genes : TreeFamKCNH4
HOGENOMQ9UQ05
Homologs : HomoloGeneKCNH4
Homology/Alignments : Family Browser (UCSC)KCNH4
Gene fusions - Rearrangements
Fusion : QuiverKCNH4
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKCNH4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KCNH4
dbVarKCNH4
ClinVarKCNH4
1000_GenomesKCNH4 
Exome Variant ServerKCNH4
ExAC (Exome Aggregation Consortium)ENSG00000089558
GNOMAD BrowserENSG00000089558
Varsome BrowserKCNH4
Genetic variants : HAPMAP23415
Genomic Variants (DGV)KCNH4 [DGVbeta]
DECIPHERKCNH4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKCNH4 
Mutations
ICGC Data PortalKCNH4 
TCGA Data PortalKCNH4 
Broad Tumor PortalKCNH4
OASIS PortalKCNH4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKCNH4  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DKCNH4
Mutations and Diseases : HGMDKCNH4
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 KCNH4
DgiDB (Drug Gene Interaction Database)KCNH4
DoCM (Curated mutations)KCNH4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KCNH4 (select a term)
intoGenKCNH4
Cancer3DKCNH4(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604528   
Orphanet
DisGeNETKCNH4
MedgenKCNH4
Genetic Testing Registry KCNH4
NextProtQ9UQ05 [Medical]
TSGene23415
GENETestsKCNH4
Target ValidationKCNH4
Huge Navigator KCNH4 [HugePedia]
snp3D : Map Gene to Disease23415
BioCentury BCIQKCNH4
ClinGenKCNH4
Clinical trials, drugs, therapy
Protein Interactions : CTD23415
Pharm GKB GenePA30039
Clinical trialKCNH4
Miscellaneous
canSAR (ICR)KCNH4 (select the gene name)
HarmonizomeKCNH4
DataMed IndexKCNH4
Probes
Litterature
PubMed7 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKCNH4
EVEXKCNH4
GoPubMedKCNH4
iHOPKCNH4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Tue Jun 30 19:42:50 CEST 2020
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