Atlas of Genetics and Cytogenetics in Oncology and Haematology


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

Identity

Alias (NCBI)ELK
ELK1
Kv12.1
elk3
HGNC (Hugo) KCNH8
HGNC Alias symbKv12.1
elk3
HGNC Previous namepotassium voltage-gated channel, subfamily H (eag-related), member 8
LocusID (NCBI) 131096
Atlas_Id 53013
Location 3p24.3  [Link to chromosome band 3p24]
Location_base_pair Starts at 19148510 and ends at 19535642 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)
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    potassium voltage-gated channel subfamily H member 8
AliasesELK; ELK1; Kv12.1; elk3
GeneCards (Weizmann)KCNH8
Ensembl hg19 (Hinxton)ENSG00000183960 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000183960 [Gene_View]  ENSG00000183960 [Sequence]  chr3:19148510-19535642 [Contig_View]  KCNH8 [Vega]
ICGC DataPortalENSG00000183960
TCGA cBioPortalKCNH8
AceView (NCBI)KCNH8
Genatlas (Paris)KCNH8
SOURCE (Princeton)KCNH8
Genetics Home Reference (NIH)KCNH8
Genomic and cartography
GoldenPath hg38 (UCSC)KCNH8  -     chr3:19148510-19535642 +  3p24.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KCNH8  -     3p24.3   [Description]    (hg19-Feb_2009)
GoldenPathKCNH8 - 3p24.3 [CytoView hg19]  KCNH8 - 3p24.3 [CytoView hg38]
ImmunoBaseENSG00000183960
Genome Data Viewer NCBIKCNH8 [Mapview hg19]  
OMIM608260   
Gene and transcription
Genbank (Entrez)AB209053 AK294417 AK294759 AK295633 AK309034
RefSeq transcript (Entrez)NM_144633
Consensus coding sequences : CCDS (NCBI)KCNH8
Gene ExpressionKCNH8 [ NCBI-GEO ]   KCNH8 [ EBI - ARRAY_EXPRESS ]   KCNH8 [ SEEK ]   KCNH8 [ MEM ]
Gene Expression Viewer (FireBrowse)KCNH8 [ Firebrowse - Broad ]
GenevisibleExpression of KCNH8 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)131096
GTEX Portal (Tissue expression)KCNH8
Human Protein AtlasENSG00000183960-KCNH8 [pathology]   [cell]   [tissue]
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
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    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)KCNH8
SuperfamilyQ96L42
AlphaFold pdb e-kbQ96L42   
Human Protein Atlas [tissue]ENSG00000183960-KCNH8 [tissue]
HPRD10006
Protein Interaction databases
DIP (DOE-UCLA)Q96L42
IntAct (EBI)Q96L42
BioGRIDKCNH8
STRING (EMBL)KCNH8
ZODIACKCNH8
Ontologies - Pathways
QuickGOQ96L42
Ontology : AmiGOvoltage-gated potassium channel activity  plasma membrane  plasma membrane  integral component of plasma membrane  regulation of ion transmembrane transport  regulation of membrane potential  potassium ion transmembrane transport  potassium ion transmembrane transport  
Ontology : EGO-EBIvoltage-gated potassium channel activity  plasma membrane  plasma membrane  integral component of plasma membrane  regulation of ion transmembrane transport  regulation of membrane potential  potassium ion transmembrane transport  potassium ion transmembrane transport  
NDEx NetworkKCNH8
Atlas of Cancer Signalling NetworkKCNH8
Wikipedia pathwaysKCNH8
Orthology - Evolution
OrthoDB131096
GeneTree (enSembl)ENSG00000183960
Phylogenetic Trees/Animal Genes : TreeFamKCNH8
Homologs : HomoloGeneKCNH8
Homology/Alignments : Family Browser (UCSC)KCNH8
Gene fusions - Rearrangements
Fusion : QuiverKCNH8
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKCNH8 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KCNH8
dbVarKCNH8
ClinVarKCNH8
MonarchKCNH8
1000_GenomesKCNH8 
Exome Variant ServerKCNH8
GNOMAD BrowserENSG00000183960
Varsome BrowserKCNH8
ACMGKCNH8 variants
VarityQ96L42
Genomic Variants (DGV)KCNH8 [DGVbeta]
DECIPHERKCNH8 [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DKCNH8
Mutations and Diseases : HGMDKCNH8
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaKCNH8
DgiDB (Drug Gene Interaction Database)KCNH8
DoCM (Curated mutations)KCNH8
CIViC (Clinical Interpretations of Variants in Cancer)KCNH8
Cancer3DKCNH8
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608260   
Orphanet
DisGeNETKCNH8
MedgenKCNH8
Genetic Testing Registry KCNH8
NextProtQ96L42 [Medical]
GENETestsKCNH8
Target ValidationKCNH8
Huge Navigator KCNH8 [HugePedia]
ClinGenKCNH8
Clinical trials, drugs, therapy
MyCancerGenomeKCNH8
Protein Interactions : CTDKCNH8
Pharm GKB GenePA38724
PharosQ96L42
Clinical trialKCNH8
Miscellaneous
canSAR (ICR)KCNH8
HarmonizomeKCNH8
DataMed IndexKCNH8
Probes
Litterature
PubMed11 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXKCNH8
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:14:39 CEST 2021

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