Atlas of Genetics and Cytogenetics in Oncology and Haematology


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KCNH2 (potassium voltage-gated channel subfamily H member 2)

Identity

Alias_namesLQT2
potassium voltage-gated channel
Alias_symbol (synonym)Kv11.1
HERG
erg1
Other aliasERG-1
ERG1
H-ERG
HERG1
SQT1
HGNC (Hugo) KCNH2
LocusID (NCBI) 3757
Atlas_Id 45971
Location 7q36.1  [Link to chromosome band 7q36]
Location_base_pair Starts at 150944956 and ends at 150978314 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CREB5 (7p15.1) / KCNH2 (7q36.1)NEAT1 (11q13.1) / KCNH2 (7q36.1)CREB5 7p15.1 / KCNH2 7q36.1

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)KCNH2   6251
LRG (Locus Reference Genomic)LRG_288
Cards
Entrez_Gene (NCBI)KCNH2  3757  potassium voltage-gated channel subfamily H member 2
AliasesERG-1; ERG1; H-ERG; HERG; 
HERG1; Kv11.1; LQT2; SQT1
GeneCards (Weizmann)KCNH2
Ensembl hg19 (Hinxton)ENSG00000055118 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000055118 [Gene_View]  chr7:150944956-150978314 [Contig_View]  KCNH2 [Vega]
ICGC DataPortalENSG00000055118
TCGA cBioPortalKCNH2
AceView (NCBI)KCNH2
Genatlas (Paris)KCNH2
WikiGenes3757
SOURCE (Princeton)KCNH2
Genetics Home Reference (NIH)KCNH2
Genomic and cartography
GoldenPath hg38 (UCSC)KCNH2  -     chr7:150944956-150978314 -  7q36.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KCNH2  -     7q36.1   [Description]    (hg19-Feb_2009)
EnsemblKCNH2 - 7q36.1 [CytoView hg19]  KCNH2 - 7q36.1 [CytoView hg38]
Mapping of homologs : NCBIKCNH2 [Mapview hg19]  KCNH2 [Mapview hg38]
OMIM152427   609620   613688   
Gene and transcription
Genbank (Entrez)AB044806 AF052728 AF363636 AJ512214 AJ609614
RefSeq transcript (Entrez)NM_000238 NM_001204798 NM_172056 NM_172057
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KCNH2
Cluster EST : UnigeneHs.647099 [ NCBI ]
CGAP (NCI)Hs.647099
Alternative Splicing GalleryENSG00000055118
Gene ExpressionKCNH2 [ NCBI-GEO ]   KCNH2 [ EBI - ARRAY_EXPRESS ]   KCNH2 [ SEEK ]   KCNH2 [ MEM ]
Gene Expression Viewer (FireBrowse)KCNH2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3757
GTEX Portal (Tissue expression)KCNH2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ12809   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ12809  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ12809
Splice isoforms : SwissVarQ12809
PhosPhoSitePlusQ12809
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_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)KCNH2
DMDM Disease mutations3757
Blocks (Seattle)KCNH2
PDB (SRS)1BYW    1UJL    2L0W    2L1M    2L4R    2LE7    2N7G    4HP9    4HQA   
PDB (PDBSum)1BYW    1UJL    2L0W    2L1M    2L4R    2LE7    2N7G    4HP9    4HQA   
PDB (IMB)1BYW    1UJL    2L0W    2L1M    2L4R    2LE7    2N7G    4HP9    4HQA   
PDB (RSDB)1BYW    1UJL    2L0W    2L1M    2L4R    2LE7    2N7G    4HP9    4HQA   
Structural Biology KnowledgeBase1BYW    1UJL    2L0W    2L1M    2L4R    2LE7    2N7G    4HP9    4HQA   
SCOP (Structural Classification of Proteins)1BYW    1UJL    2L0W    2L1M    2L4R    2LE7    2N7G    4HP9    4HQA   
CATH (Classification of proteins structures)1BYW    1UJL    2L0W    2L1M    2L4R    2LE7    2N7G    4HP9    4HQA   
SuperfamilyQ12809
Human Protein AtlasENSG00000055118
Peptide AtlasQ12809
HPRD01069
IPIIPI00029662   IPI00172614   IPI00221191   IPI01013323   IPI01008816   IPI00221190   IPI00883778   
Protein Interaction databases
DIP (DOE-UCLA)Q12809
IntAct (EBI)Q12809
FunCoupENSG00000055118
BioGRIDKCNH2
STRING (EMBL)KCNH2
ZODIACKCNH2
Ontologies - Pathways
QuickGOQ12809
Ontology : AmiGOphosphorelay sensor kinase activity  phosphorelay signal transduction system  regulation of heart rate by hormone  inward rectifier potassium channel activity  voltage-gated potassium channel activity  delayed rectifier potassium channel activity  delayed rectifier potassium channel activity  protein binding  plasma membrane  plasma membrane  plasma membrane  voltage-gated potassium channel complex  voltage-gated potassium channel complex  cell surface  signal transduction by protein phosphorylation  ubiquitin protein ligase binding  cellular response to drug  regulation of membrane potential  identical protein binding  protein homodimerization activity  perinuclear region of cytoplasm  potassium ion homeostasis  C3HC4-type RING finger domain binding  cardiac muscle contraction  regulation of membrane repolarization  regulation of ventricular cardiac muscle cell membrane repolarization  cardiac conduction  potassium ion export  potassium ion transmembrane transport  ventricular cardiac muscle cell action potential  voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization  membrane depolarization during action potential  membrane repolarization during action potential  membrane repolarization during cardiac muscle cell action potential  regulation of heart rate by cardiac conduction  scaffold protein binding  potassium ion export across plasma membrane  membrane repolarization during ventricular cardiac muscle cell action potential  regulation of potassium ion transmembrane transport  negative regulation of potassium ion transmembrane transport  positive regulation of potassium ion transmembrane transport  voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization  negative regulation of potassium ion export  
Ontology : EGO-EBIphosphorelay sensor kinase activity  phosphorelay signal transduction system  regulation of heart rate by hormone  inward rectifier potassium channel activity  voltage-gated potassium channel activity  delayed rectifier potassium channel activity  delayed rectifier potassium channel activity  protein binding  plasma membrane  plasma membrane  plasma membrane  voltage-gated potassium channel complex  voltage-gated potassium channel complex  cell surface  signal transduction by protein phosphorylation  ubiquitin protein ligase binding  cellular response to drug  regulation of membrane potential  identical protein binding  protein homodimerization activity  perinuclear region of cytoplasm  potassium ion homeostasis  C3HC4-type RING finger domain binding  cardiac muscle contraction  regulation of membrane repolarization  regulation of ventricular cardiac muscle cell membrane repolarization  cardiac conduction  potassium ion export  potassium ion transmembrane transport  ventricular cardiac muscle cell action potential  voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization  membrane depolarization during action potential  membrane repolarization during action potential  membrane repolarization during cardiac muscle cell action potential  regulation of heart rate by cardiac conduction  scaffold protein binding  potassium ion export across plasma membrane  membrane repolarization during ventricular cardiac muscle cell action potential  regulation of potassium ion transmembrane transport  negative regulation of potassium ion transmembrane transport  positive regulation of potassium ion transmembrane transport  voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization  negative regulation of potassium ion export  
NDEx NetworkKCNH2
Atlas of Cancer Signalling NetworkKCNH2
Wikipedia pathwaysKCNH2
Orthology - Evolution
OrthoDB3757
GeneTree (enSembl)ENSG00000055118
Phylogenetic Trees/Animal Genes : TreeFamKCNH2
HOVERGENQ12809
HOGENOMQ12809
Homologs : HomoloGeneKCNH2
Homology/Alignments : Family Browser (UCSC)KCNH2
Gene fusions - Rearrangements
Fusion : MitelmanCREB5/KCNH2 [7p15.1/7q36.1]  [t(7;7)(p15;q36)]  
Fusion: TCGACREB5 7p15.1 KCNH2 7q36.1 GBM
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKCNH2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KCNH2
dbVarKCNH2
ClinVarKCNH2
1000_GenomesKCNH2 
Exome Variant ServerKCNH2
ExAC (Exome Aggregation Consortium)KCNH2 (select the gene name)
Genetic variants : HAPMAP3757
Genomic Variants (DGV)KCNH2 [DGVbeta]
DECIPHERKCNH2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKCNH2 
Mutations
ICGC Data PortalKCNH2 
TCGA Data PortalKCNH2 
Broad Tumor PortalKCNH2
OASIS PortalKCNH2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKCNH2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKCNH2
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
LOVD (Leiden Open Variation Database)Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
BioMutasearch KCNH2
DgiDB (Drug Gene Interaction Database)KCNH2
DoCM (Curated mutations)KCNH2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KCNH2 (select a term)
intoGenKCNH2
Cancer3DKCNH2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM152427    609620    613688   
Orphanet10670    14727   
MedgenKCNH2
Genetic Testing Registry KCNH2
NextProtQ12809 [Medical]
TSGene3757
GENETestsKCNH2
Target ValidationKCNH2
Huge Navigator KCNH2 [HugePedia]
snp3D : Map Gene to Disease3757
BioCentury BCIQKCNH2
ClinGenKCNH2 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3757
Chemical/Pharm GKB GenePA212
Clinical trialKCNH2
Miscellaneous
canSAR (ICR)KCNH2 (select the gene name)
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKCNH2
EVEXKCNH2
GoPubMedKCNH2
iHOPKCNH2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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

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