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

2007-02-01  

Identity

HGNC
KCNH2
LOCATION
7q36.1
LOCUSID
3757
ALIAS
ERG-1,ERG1,H-ERG,HERG,HERG1,Kv11.1,LQT2,SQT1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 3757
MIM: 152427
HGNC: 6251
Ensembl: ENSG00000055118

Variants:

dbSNP: 3757
ClinVar: 3757
TCGA: ENSG00000055118
COSMIC: KCNH2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000055118ENST00000262186Q12809
ENSG00000055118ENST00000262186A0A090N8Q0
ENSG00000055118ENST00000330883Q12809
ENSG00000055118ENST00000330883A0A090N7X5
ENSG00000055118ENST00000430723Q86U57

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Neuronal SystemREACTOMER-HSA-112316
Potassium ChannelsREACTOMER-HSA-1296071
Voltage gated Potassium channelsREACTOMER-HSA-1296072
Muscle contractionREACTOMER-HSA-397014
Cardiac conductionREACTOMER-HSA-5576891
Phase 3 - rapid repolarisationREACTOMER-HSA-5576890

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA10202telithromycinChemicalVipGeneassociated16614168, 16278312
PA10407calcium channel blockersChemicalClinicalAnnotationassociatedPD
PA146096020nitrendipineChemicalClinicalAnnotationassociatedPD
PA159018367Brugada syndromeDiseaseDataAnnotationassociated
PA164784002sertindoleChemicalVipGeneassociated15718164, 16278312, 14999113
PA165817938prenylamineChemicalVipGeneassociated16278312
PA165817939pyrilamineChemicalVipGeneassociated16278312
PA165817950terodilineChemicalVipGeneassociated15718164, 16253929, 14999113
PA165818136Shortened QT intervalDiseaseVipGeneassociated12829173, 10862094
PA165818137lidoflazineChemicalVipGeneassociated15718164, 16278312, 14999113
PA166157289rs1137617VariantVipGeneassociated
PA166157308rs1805123VariantVipGeneassociated11997281, 12829173, 14499861, 14975928, 15746444, 17709632, 18222980, 10862094
PA166157459rs12720441VariantVipGeneassociated11997281
PA166157488rs36210421VariantVipGeneassociated14975928, 15522280, 17275752, 11468227
PA166183774short qt syndrome 1DiseaseClinicalAnnotationassociatedPD16842817
PA223KCNQ1GeneDataAnnotationassociated
PA25408BRAFGeneMultilinkAnnotationassociated26431495
PA304SCN5AGeneDataAnnotationassociated
PA444807Long QT SyndromeDiseaseVipGeneassociated14999113, 15522280, 15718164, 15746444, 17143043, 14499861
PA445787SyncopeDiseaseVariantAnnotationassociatedPD19057127
PA446294Torsades de PointesDiseaseClinicalAnnotation, VariantAnnotation, VipGeneassociatedPD14999113, 15522280, 15718164, 17143043, 11997281, 19057127
PA447184Romano-Ward SyndromeDiseaseDataAnnotationassociated
PA447288Essential hypertensionDiseaseClinicalAnnotationassociatedPD
PA447300Acquired Long QT Syndrome (aLQTS)DiseaseVariantAnnotation, VipGeneassociatedPD15522280, 15718164, 17143043, 14999113, 19057127
PA448383amiodaroneChemicalClinicalAnnotation, VipGeneassociatedPD14999113, 11997281
PA448498astemizoleChemicalVipGeneassociated14999113, 15718164, 16253929, 18701618, 10376921
PA449011cisaprideChemicalVariantAnnotation, VipGeneambiguous14999113, 15718164, 16253929, 18701618, 9374794, 14975928
PA449373disopyramideChemicalClinicalAnnotationassociatedPD16842817
PA449389dofetilideChemicalVariantAnnotation, VipGeneassociatedPK15522280, 18701618, 14999113, 15522280
PA449409doxepinChemicalVipGeneassociated
PA449422droperidolChemicalVipGeneassociated14999113
PA449493erythromycinChemicalVipGeneassociated16614168
PA449673fluoxetineChemicalVipGeneassociated11805215
PA449812grepafloxacinChemicalVipGeneassociated15718164, 16253929, 14999113
PA449841haloperidolChemicalVipGeneassociated16278312
PA449943hydroxyzineChemicalVariantAnnotation, VipGeneassociatedPD19057127
PA450215levomethadyl acetateChemicalVipGeneassociated15718164, 16253929, 14999113
PA450401methadoneChemicalVipGeneassociated17329992, 14999113
PA450492mibefradilChemicalVipGeneassociated16253929
PA450555moxifloxacinChemicalVipGeneassociated16614168
PA451107probucolChemicalVipGeneassociated15043509
PA451131propafenoneChemicalVipGeneassociated16278312
PA451209quinidineChemicalClinicalAnnotationassociatedPD16842817
PA451619terfenadineChemicalVipGeneassociated15718164, 16253929, 18701618, 14999113
PA451666thioridazineChemicalVipGeneassociated16278312

References

Pubmed IDYearTitleCitations
377693552024Translation reinitiation in c.453delC frameshift mutation of KCNH2 producing functional hERG K+ channels with mild dominant negative effect in the heterozygote patient-derived iPSC cardiomyocytes.1
379233592024Integrins regulate hERG1 dynamics by girdin-dependent Gαi3: signaling and modeling in cancer cells.0
380864552024Functional and clinical characterization of a novel homozygous KCNH2 missense variant in the pore region of Kv11.1 leading to a viable but severe long-QT syndrome.0
381810282024Identification and characterization of two novel KCNH2 mutations contributing to long QT syndrome.0
381819282024Dissecting the associations of KCNH2 genetic polymorphisms with various types of cardiac arrhythmias.0
382190132024Clinical interpretation of KCNH2 variants using a robust PS3/BS3 functional patch-clamp assay.3
383172332024An LQT2-related mutation in the voltage-sensing domain is involved in switching the gating polarity of hERG.0
377693552024Translation reinitiation in c.453delC frameshift mutation of KCNH2 producing functional hERG K+ channels with mild dominant negative effect in the heterozygote patient-derived iPSC cardiomyocytes.1
379233592024Integrins regulate hERG1 dynamics by girdin-dependent Gαi3: signaling and modeling in cancer cells.0
380864552024Functional and clinical characterization of a novel homozygous KCNH2 missense variant in the pore region of Kv11.1 leading to a viable but severe long-QT syndrome.0
381810282024Identification and characterization of two novel KCNH2 mutations contributing to long QT syndrome.0
381819282024Dissecting the associations of KCNH2 genetic polymorphisms with various types of cardiac arrhythmias.0
382190132024Clinical interpretation of KCNH2 variants using a robust PS3/BS3 functional patch-clamp assay.3
383172332024An LQT2-related mutation in the voltage-sensing domain is involved in switching the gating polarity of hERG.0
362690832023Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance.1

Citation

Dessen P

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

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45971