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

2007-02-01 Affiliation

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

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000055118	ENST00000262186	Q12809
ENSG00000055118	ENST00000262186	A0A090N8Q0
ENSG00000055118	ENST00000330883	Q12809
ENSG00000055118	ENST00000330883	A0A090N7X5
ENSG00000055118	ENST00000430723	Q86U57

Expression (GTEx)

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

Pathway	Source	External ID
Neuronal System	REACTOME	R-HSA-112316
Potassium Channels	REACTOME	R-HSA-1296071
Voltage gated Potassium channels	REACTOME	R-HSA-1296072
Muscle contraction	REACTOME	R-HSA-397014
Cardiac conduction	REACTOME	R-HSA-5576891
Phase 3 - rapid repolarisation	REACTOME	R-HSA-5576890

PharmGKB

Entity ID	Name	Type	Evidence	Association	PK	PD	PMIDs
PA10202	telithromycin	Chemical	VipGene	associated			16614168, 16278312
PA10407	calcium channel blockers	Chemical	ClinicalAnnotation	associated		PD
PA146096020	nitrendipine	Chemical	ClinicalAnnotation	associated		PD
PA159018367	Brugada syndrome	Disease	DataAnnotation	associated
PA164784002	sertindole	Chemical	VipGene	associated			15718164, 16278312, 14999113
PA165817938	prenylamine	Chemical	VipGene	associated			16278312
PA165817939	pyrilamine	Chemical	VipGene	associated			16278312
PA165817950	terodiline	Chemical	VipGene	associated			15718164, 16253929, 14999113
PA165818136	Shortened QT interval	Disease	VipGene	associated			12829173, 10862094
PA165818137	lidoflazine	Chemical	VipGene	associated			15718164, 16278312, 14999113
PA166157289	rs1137617	Variant	VipGene	associated
PA166157308	rs1805123	Variant	VipGene	associated			11997281, 12829173, 14499861, 14975928, 15746444, 17709632, 18222980, 10862094
PA166157459	rs12720441	Variant	VipGene	associated			11997281
PA166157488	rs36210421	Variant	VipGene	associated			14975928, 15522280, 17275752, 11468227
PA166183774	short qt syndrome 1	Disease	ClinicalAnnotation	associated		PD	16842817
PA223	KCNQ1	Gene	DataAnnotation	associated
PA25408	BRAF	Gene	MultilinkAnnotation	associated			26431495
PA304	SCN5A	Gene	DataAnnotation	associated
PA444807	Long QT Syndrome	Disease	VipGene	associated			14999113, 15522280, 15718164, 15746444, 17143043, 14499861
PA445787	Syncope	Disease	VariantAnnotation	associated		PD	19057127
PA446294	Torsades de Pointes	Disease	ClinicalAnnotation, VariantAnnotation, VipGene	associated		PD	14999113, 15522280, 15718164, 17143043, 11997281, 19057127
PA447184	Romano-Ward Syndrome	Disease	DataAnnotation	associated
PA447288	Essential hypertension	Disease	ClinicalAnnotation	associated		PD
PA447300	Acquired Long QT Syndrome (aLQTS)	Disease	VariantAnnotation, VipGene	associated		PD	15522280, 15718164, 17143043, 14999113, 19057127
PA448383	amiodarone	Chemical	ClinicalAnnotation, VipGene	associated		PD	14999113, 11997281
PA448498	astemizole	Chemical	VipGene	associated			14999113, 15718164, 16253929, 18701618, 10376921
PA449011	cisapride	Chemical	VariantAnnotation, VipGene	ambiguous			14999113, 15718164, 16253929, 18701618, 9374794, 14975928
PA449373	disopyramide	Chemical	ClinicalAnnotation	associated		PD	16842817
PA449389	dofetilide	Chemical	VariantAnnotation, VipGene	associated	PK		15522280, 18701618, 14999113, 15522280
PA449409	doxepin	Chemical	VipGene	associated
PA449422	droperidol	Chemical	VipGene	associated			14999113
PA449493	erythromycin	Chemical	VipGene	associated			16614168
PA449673	fluoxetine	Chemical	VipGene	associated			11805215
PA449812	grepafloxacin	Chemical	VipGene	associated			15718164, 16253929, 14999113
PA449841	haloperidol	Chemical	VipGene	associated			16278312
PA449943	hydroxyzine	Chemical	VariantAnnotation, VipGene	associated		PD	19057127
PA450215	levomethadyl acetate	Chemical	VipGene	associated			15718164, 16253929, 14999113
PA450401	methadone	Chemical	VipGene	associated			17329992, 14999113
PA450492	mibefradil	Chemical	VipGene	associated			16253929
PA450555	moxifloxacin	Chemical	VipGene	associated			16614168
PA451107	probucol	Chemical	VipGene	associated			15043509
PA451131	propafenone	Chemical	VipGene	associated			16278312
PA451209	quinidine	Chemical	ClinicalAnnotation	associated		PD	16842817
PA451619	terfenadine	Chemical	VipGene	associated			15718164, 16253929, 18701618, 14999113
PA451666	thioridazine	Chemical	VipGene	associated			16278312

References

Pubmed ID	Year	Title	Citations
11136691	2001	Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias.	322
19305408	2009	Common variants at ten loci influence QT interval duration in the QTGEN Study.	190
15840476	2005	Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.	177
22988594	2012	hERG K(+) channels: structure, function, and clinical significance.	166
14676148	2004	Sudden death associated with short-QT syndrome linked to mutations in HERG.	163
19305409	2009	Common variants at ten loci modulate the QT interval duration in the QTSCD Study.	162
16432067	2006	Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism.	141
19716085	2009	Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.	126
19716085	2009	Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.	126
11997281	2002	Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes.	125

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/kcnh2