Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

KCNH5 (potassium voltage-gated channel subfamily H member 5)

Identity

Alias_namespotassium voltage-gated channel
Alias_symbol (synonym)Kv10.2
H-EAG2
eag2
Other aliasEAG2
hEAG2
HGNC (Hugo) KCNH5
LocusID (NCBI) 27133
Atlas_Id 50268
Location 14q23.2  [Link to chromosome band 14q23]
Location_base_pair Starts at 62706577 and ends at 63045238 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
LRR1 (14q21.3) / KCNH5 (14q23.2)LRR1 14q21.3 / KCNH5 14q23.2

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

 


External links

Nomenclature
HGNC (Hugo)KCNH5   6254
Cards
Entrez_Gene (NCBI)KCNH5  27133  potassium voltage-gated channel subfamily H member 5
AliasesEAG2; H-EAG2; Kv10.2; hEAG2
GeneCards (Weizmann)KCNH5
Ensembl hg19 (Hinxton)ENSG00000140015 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000140015 [Gene_View]  chr14:62706577-63045238 [Contig_View]  KCNH5 [Vega]
ICGC DataPortalENSG00000140015
TCGA cBioPortalKCNH5
AceView (NCBI)KCNH5
Genatlas (Paris)KCNH5
WikiGenes27133
SOURCE (Princeton)KCNH5
Genetics Home Reference (NIH)KCNH5
Genomic and cartography
GoldenPath hg38 (UCSC)KCNH5  -     chr14:62706577-63045238 -  14q23.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KCNH5  -     14q23.2   [Description]    (hg19-Feb_2009)
EnsemblKCNH5 - 14q23.2 [CytoView hg19]  KCNH5 - 14q23.2 [CytoView hg38]
Mapping of homologs : NCBIKCNH5 [Mapview hg19]  KCNH5 [Mapview hg38]
OMIM605716   
Gene and transcription
Genbank (Entrez)AF418206 AF472412 AF493798 AK074484 AW628656
RefSeq transcript (Entrez)NM_139318 NM_172375 NM_172376
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KCNH5
Cluster EST : UnigeneHs.27043 [ NCBI ]
CGAP (NCI)Hs.27043
Alternative Splicing GalleryENSG00000140015
Gene ExpressionKCNH5 [ NCBI-GEO ]   KCNH5 [ EBI - ARRAY_EXPRESS ]   KCNH5 [ SEEK ]   KCNH5 [ MEM ]
Gene Expression Viewer (FireBrowse)KCNH5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)27133
GTEX Portal (Tissue expression)KCNH5
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8NCM2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8NCM2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8NCM2
Splice isoforms : SwissVarQ8NCM2
PhosPhoSitePlusQ8NCM2
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    K_chnl_volt-dep_EAG/ELK/ERG    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)KCNH5
DMDM Disease mutations27133
Blocks (Seattle)KCNH5
SuperfamilyQ8NCM2
Human Protein AtlasENSG00000140015
Peptide AtlasQ8NCM2
HPRD10421
IPIIPI00171491   IPI00220699   IPI00220700   IPI00941496   
Protein Interaction databases
DIP (DOE-UCLA)Q8NCM2
IntAct (EBI)Q8NCM2
FunCoupENSG00000140015
BioGRIDKCNH5
STRING (EMBL)KCNH5
ZODIACKCNH5
Ontologies - Pathways
QuickGOQ8NCM2
Ontology : AmiGOphosphorelay sensor kinase activity  phosphorelay signal transduction system  voltage-gated potassium channel activity  calmodulin binding  intracellular  plasma membrane  integral component of plasma membrane  cell surface  regulation of G2/M transition of mitotic cell cycle  signal transduction by protein phosphorylation  regulation of ion transmembrane transport  regulation of membrane potential  ion channel binding  protein heterodimerization activity  potassium ion transmembrane transport  
Ontology : EGO-EBIphosphorelay sensor kinase activity  phosphorelay signal transduction system  voltage-gated potassium channel activity  calmodulin binding  intracellular  plasma membrane  integral component of plasma membrane  cell surface  regulation of G2/M transition of mitotic cell cycle  signal transduction by protein phosphorylation  regulation of ion transmembrane transport  regulation of membrane potential  ion channel binding  protein heterodimerization activity  potassium ion transmembrane transport  
NDEx NetworkKCNH5
Atlas of Cancer Signalling NetworkKCNH5
Wikipedia pathwaysKCNH5
Orthology - Evolution
OrthoDB27133
GeneTree (enSembl)ENSG00000140015
Phylogenetic Trees/Animal Genes : TreeFamKCNH5
HOVERGENQ8NCM2
HOGENOMQ8NCM2
Homologs : HomoloGeneKCNH5
Homology/Alignments : Family Browser (UCSC)KCNH5
Gene fusions - Rearrangements
Fusion : MitelmanLRR1/KCNH5 [14q21.3/14q23.2]  [t(14;14)(q21;q23)]  
Fusion: TCGALRR1 14q21.3 KCNH5 14q23.2 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKCNH5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KCNH5
dbVarKCNH5
ClinVarKCNH5
1000_GenomesKCNH5 
Exome Variant ServerKCNH5
ExAC (Exome Aggregation Consortium)KCNH5 (select the gene name)
Genetic variants : HAPMAP27133
Genomic Variants (DGV)KCNH5 [DGVbeta]
DECIPHERKCNH5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKCNH5 
Mutations
ICGC Data PortalKCNH5 
TCGA Data PortalKCNH5 
Broad Tumor PortalKCNH5
OASIS PortalKCNH5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKCNH5  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKCNH5
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 KCNH5
DgiDB (Drug Gene Interaction Database)KCNH5
DoCM (Curated mutations)KCNH5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KCNH5 (select a term)
intoGenKCNH5
Cancer3DKCNH5(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605716   
Orphanet
MedgenKCNH5
Genetic Testing Registry KCNH5
NextProtQ8NCM2 [Medical]
TSGene27133
GENETestsKCNH5
Target ValidationKCNH5
Huge Navigator KCNH5 [HugePedia]
snp3D : Map Gene to Disease27133
BioCentury BCIQKCNH5
ClinGenKCNH5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD27133
Chemical/Pharm GKB GenePA30040
Clinical trialKCNH5
Miscellaneous
canSAR (ICR)KCNH5 (select the gene name)
Probes
Litterature
PubMed25 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKCNH5
EVEXKCNH5
GoPubMedKCNH5
iHOPKCNH5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jun 7 12:39:13 CEST 2017

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.