Atlas of Genetics and Cytogenetics in Oncology and Haematology


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KCNH8 (potassium voltage-gated channel subfamily H member 8)

Identity

Alias_namespotassium voltage-gated channel
Alias_symbol (synonym)Kv12.1
elk3
Other aliasELK
ELK1
HGNC (Hugo) KCNH8
LocusID (NCBI) 131096
Atlas_Id 53013
Location 3p24.3  [Link to chromosome band 3p24]
Location_base_pair Starts at 19190017 and ends at 19577135 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CCDC6 (10q21.2) / KCNH8 (3p24.3)KCNH8 (3p24.3) / CCDC6 (10q21.2)LRP1B (2q22.1) / KCNH8 (3p24.3)
MAN2A1 (5q21.3) / KCNH8 (3p24.3)

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)KCNH8   18864
Cards
Entrez_Gene (NCBI)KCNH8  131096  potassium voltage-gated channel subfamily H member 8
AliasesELK; ELK1; Kv12.1; elk3
GeneCards (Weizmann)KCNH8
Ensembl hg19 (Hinxton)ENSG00000183960 [Gene_View]  chr3:19190017-19577135 [Contig_View]  KCNH8 [Vega]
Ensembl hg38 (Hinxton)ENSG00000183960 [Gene_View]  chr3:19190017-19577135 [Contig_View]  KCNH8 [Vega]
ICGC DataPortalENSG00000183960
TCGA cBioPortalKCNH8
AceView (NCBI)KCNH8
Genatlas (Paris)KCNH8
WikiGenes131096
SOURCE (Princeton)KCNH8
Genetics Home Reference (NIH)KCNH8
Genomic and cartography
GoldenPath hg19 (UCSC)KCNH8  -     chr3:19190017-19577135 +  3p24.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)KCNH8  -     3p24.3   [Description]    (hg38-Dec_2013)
EnsemblKCNH8 - 3p24.3 [CytoView hg19]  KCNH8 - 3p24.3 [CytoView hg38]
Mapping of homologs : NCBIKCNH8 [Mapview hg19]  KCNH8 [Mapview hg38]
OMIM608260   
Gene and transcription
Genbank (Entrez)AB209053 AK294417 AK294759 AK295633 AK309034
RefSeq transcript (Entrez)NM_144633
RefSeq genomic (Entrez)NC_000003 NC_018914 NT_022517 NW_004929309
Consensus coding sequences : CCDS (NCBI)KCNH8
Cluster EST : UnigeneHs.475656 [ NCBI ]
CGAP (NCI)Hs.475656
Alternative Splicing GalleryENSG00000183960
Gene ExpressionKCNH8 [ NCBI-GEO ]   KCNH8 [ EBI - ARRAY_EXPRESS ]   KCNH8 [ SEEK ]   KCNH8 [ MEM ]
Gene Expression Viewer (FireBrowse)KCNH8 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)131096
GTEX Portal (Tissue expression)KCNH8
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96L42   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96L42  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96L42
Splice isoforms : SwissVarQ96L42
PhosPhoSitePlusQ96L42
Domaine pattern : Prosite (Expaxy)CNMP_BINDING_3 (PS50042)    PAC (PS50113)   
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    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)KCNH8
DMDM Disease mutations131096
Blocks (Seattle)KCNH8
SuperfamilyQ96L42
Human Protein AtlasENSG00000183960
Peptide AtlasQ96L42
HPRD10006
IPIIPI00306984   IPI00922536   IPI00927649   
Protein Interaction databases
DIP (DOE-UCLA)Q96L42
IntAct (EBI)Q96L42
FunCoupENSG00000183960
BioGRIDKCNH8
STRING (EMBL)KCNH8
ZODIACKCNH8
Ontologies - Pathways
QuickGOQ96L42
Ontology : AmiGOphosphorelay sensor kinase activity  phosphorelay signal transduction system  voltage-gated potassium channel activity  intracellular  plasma membrane  integral component of plasma membrane  signal transduction by protein phosphorylation  regulation of ion transmembrane transport  regulation of membrane potential  potassium ion transmembrane transport  
Ontology : EGO-EBIphosphorelay sensor kinase activity  phosphorelay signal transduction system  voltage-gated potassium channel activity  intracellular  plasma membrane  integral component of plasma membrane  signal transduction by protein phosphorylation  regulation of ion transmembrane transport  regulation of membrane potential  potassium ion transmembrane transport  
NDEx NetworkKCNH8
Atlas of Cancer Signalling NetworkKCNH8
Wikipedia pathwaysKCNH8
Orthology - Evolution
OrthoDB131096
GeneTree (enSembl)ENSG00000183960
Phylogenetic Trees/Animal Genes : TreeFamKCNH8
HOVERGENQ96L42
HOGENOMQ96L42
Homologs : HomoloGeneKCNH8
Homology/Alignments : Family Browser (UCSC)KCNH8
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKCNH8 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KCNH8
dbVarKCNH8
ClinVarKCNH8
1000_GenomesKCNH8 
Exome Variant ServerKCNH8
ExAC (Exome Aggregation Consortium)KCNH8 (select the gene name)
Genetic variants : HAPMAP131096
Genomic Variants (DGV)KCNH8 [DGVbeta]
DECIPHER (Syndromes)3:19190017-19577135  ENSG00000183960
CONAN: Copy Number AnalysisKCNH8 
Mutations
ICGC Data PortalKCNH8 
TCGA Data PortalKCNH8 
Broad Tumor PortalKCNH8
OASIS PortalKCNH8 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKCNH8  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKCNH8
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 KCNH8
DgiDB (Drug Gene Interaction Database)KCNH8
DoCM (Curated mutations)KCNH8 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KCNH8 (select a term)
intoGenKCNH8
Cancer3DKCNH8(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608260   
Orphanet
MedgenKCNH8
Genetic Testing Registry KCNH8
NextProtQ96L42 [Medical]
TSGene131096
GENETestsKCNH8
Huge Navigator KCNH8 [HugePedia]
snp3D : Map Gene to Disease131096
BioCentury BCIQKCNH8
ClinGenKCNH8
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD131096
Chemical/Pharm GKB GenePA38724
Clinical trialKCNH8
Miscellaneous
canSAR (ICR)KCNH8 (select the gene name)
Probes
Litterature
PubMed8 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKCNH8
EVEXKCNH8
GoPubMedKCNH8
iHOPKCNH8
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 15:05:51 CEST 2017

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