Atlas of Genetics and Cytogenetics in Oncology and Haematology

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KCNH3 (potassium voltage-gated channel subfamily H member 3)

Identity

Alias (NCBI)BEC1
ELK2
Kv12.2
HGNC (Hugo) KCNH3
HGNC Alias symbKv12.2
BEC1
elk2
HGNC Previous namepotassium voltage-gated channel, subfamily H (eag-related), member 3
LocusID (NCBI) 23416
Atlas_Id 64780
Location 12q13.12  [Link to chromosome band 12q13]
Location_base_pair Starts at 49539157 and ends at 49558312 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)

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)KCNH3   6252
Cards
Entrez_Gene (NCBI)KCNH3  23416  potassium voltage-gated channel subfamily H member 3
AliasesBEC1; ELK2; Kv12.2
GeneCards (Weizmann)KCNH3
Ensembl hg19 (Hinxton)ENSG00000135519 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000135519 [Gene_View]  ENSG00000135519 [Sequence]  chr12:49539157-49558312 [Contig_View]  KCNH3 [Vega]
ICGC DataPortalENSG00000135519
TCGA cBioPortalKCNH3
AceView (NCBI)KCNH3
Genatlas (Paris)KCNH3
WikiGenes23416
SOURCE (Princeton)KCNH3
Genetics Home Reference (NIH)KCNH3
Genomic and cartography
GoldenPath hg38 (UCSC)KCNH3  -     chr12:49539157-49558312 +  12q13.12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KCNH3  -     12q13.12   [Description]    (hg19-Feb_2009)
GoldenPathKCNH3 - 12q13.12 [CytoView hg19]  KCNH3 - 12q13.12 [CytoView hg38]
ImmunoBaseENSG00000135519
genome Data Viewer NCBIKCNH3 [Mapview hg19]  
OMIM604527   
Gene and transcription
Genbank (Entrez)AB022696 AB033108 AW248597 BC033141 BC144254
RefSeq transcript (Entrez)NM_001314030 NM_012284
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KCNH3
Alternative Splicing GalleryENSG00000135519
Gene ExpressionKCNH3 [ NCBI-GEO ]   KCNH3 [ EBI - ARRAY_EXPRESS ]   KCNH3 [ SEEK ]   KCNH3 [ MEM ]
Gene Expression Viewer (FireBrowse)KCNH3 [ Firebrowse - Broad ]
GenevisibleExpression of KCNH3 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23416
GTEX Portal (Tissue expression)KCNH3
Human Protein AtlasENSG00000135519-KCNH3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9ULD8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9ULD8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9ULD8
Splice isoforms : SwissVarQ9ULD8
PhosPhoSitePlusQ9ULD8
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   
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)  PAC (SM00086)  
Conserved Domain (NCBI)KCNH3
DMDM Disease mutations23416
Blocks (Seattle)KCNH3
SuperfamilyQ9ULD8
Human Protein Atlas [tissue]ENSG00000135519-KCNH3 [tissue]
Peptide AtlasQ9ULD8
HPRD05164
IPIIPI00329502   
Protein Interaction databases
DIP (DOE-UCLA)Q9ULD8
IntAct (EBI)Q9ULD8
FunCoupENSG00000135519
BioGRIDKCNH3
STRING (EMBL)KCNH3
ZODIACKCNH3
Ontologies - Pathways
QuickGOQ9ULD8
Ontology : AmiGOvoltage-gated potassium channel activity  voltage-gated potassium channel activity  protein binding  plasma membrane  integral component of plasma membrane  potassium ion transport  integral component of membrane  regulation of ion transmembrane transport  regulation of membrane potential  potassium ion transmembrane transport  
Ontology : EGO-EBIvoltage-gated potassium channel activity  voltage-gated potassium channel activity  protein binding  plasma membrane  integral component of plasma membrane  potassium ion transport  integral component of membrane  regulation of ion transmembrane transport  regulation of membrane potential  potassium ion transmembrane transport  
NDEx NetworkKCNH3
Atlas of Cancer Signalling NetworkKCNH3
Wikipedia pathwaysKCNH3
Orthology - Evolution
OrthoDB23416
GeneTree (enSembl)ENSG00000135519
Phylogenetic Trees/Animal Genes : TreeFamKCNH3
HOGENOMQ9ULD8
Homologs : HomoloGeneKCNH3
Homology/Alignments : Family Browser (UCSC)KCNH3
Gene fusions - Rearrangements
Fusion : QuiverKCNH3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKCNH3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KCNH3
dbVarKCNH3
ClinVarKCNH3
1000_GenomesKCNH3 
Exome Variant ServerKCNH3
GNOMAD BrowserENSG00000135519
Varsome BrowserKCNH3
Genetic variants : HAPMAP23416
Genomic Variants (DGV)KCNH3 [DGVbeta]
DECIPHERKCNH3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKCNH3 
Mutations
ICGC Data PortalKCNH3 
TCGA Data PortalKCNH3 
Broad Tumor PortalKCNH3
OASIS PortalKCNH3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKCNH3  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DKCNH3
Mutations and Diseases : HGMDKCNH3
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 KCNH3
DgiDB (Drug Gene Interaction Database)KCNH3
DoCM (Curated mutations)KCNH3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KCNH3 (select a term)
intoGenKCNH3
Cancer3DKCNH3(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604527   
Orphanet
DisGeNETKCNH3
MedgenKCNH3
Genetic Testing Registry KCNH3
NextProtQ9ULD8 [Medical]
TSGene23416
GENETestsKCNH3
Target ValidationKCNH3
Huge Navigator KCNH3 [HugePedia]
snp3D : Map Gene to Disease23416
BioCentury BCIQKCNH3
ClinGenKCNH3
Clinical trials, drugs, therapy
Protein Interactions : CTD23416
Pharm GKB GenePA30038
Clinical trialKCNH3
Miscellaneous
canSAR (ICR)KCNH3 (select the gene name)
HarmonizomeKCNH3
DataMed IndexKCNH3
Probes
Litterature
PubMed9 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKCNH3
EVEXKCNH3
GoPubMedKCNH3
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 : Thu Jul 16 15:59:40 CEST 2020
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