HERG

KCNH2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1BYW, 1UJL, 2L0W, 2L1M, 2L4R, 2LE7, 4HP9, 4HQA, 2N7G
Identifiers
Aliases	KCNH2, ERG-1, ERG1, H-ERG, HERG, HERG1, Kv11.1, LQT2, SQT1, potassium voltage-gated channel subfamily H member 2
External IDs	OMIM: 152427; MGI: 1341722; HomoloGene: 201; GeneCards: KCNH2; OMA:KCNH2 - orthologs
Gene location (Human) Chr. Chromosome 7 (human)[1] Band 7q36.1 Start 150,944,961 bp[1] End 150,978,321 bp[1]
Gene location (Mouse) Chr. Chromosome 5 (mouse)[2] Band 5 A3|5 10.94 cM Start 24,524,587 bp[2] End 24,556,602 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in apex of heart right auricle left ventricle muscle layer of sigmoid colon right hemisphere of cerebellum pituitary gland myocardium of left ventricle anterior pituitary right testis left testis Top expressed in choroid plexus of fourth ventricle neural layer of retina right ventricle lens central gray substance of midbrain epithelium of lens medulla oblongata atrium interventricular septum cerebellar cortex More reference expression data BioGPS More reference expression data
Gene ontology Molecular function potassium channel activity protein homodimerization activity scaffold protein binding voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization C3HC4-type RING finger domain binding voltage-gated ion channel activity ion channel activity protein binding identical protein binding voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization voltage-gated potassium channel activity phosphorelay sensor kinase activity ubiquitin protein ligase binding delayed rectifier potassium channel activity inward rectifier potassium channel activity Cellular component integral component of membrane membrane voltage-gated potassium channel complex plasma membrane cell surface perinuclear region of cytoplasm inward rectifier potassium channel complex integral component of plasma membrane Biological process membrane depolarization during action potential cardiac muscle contraction signal transduction regulation of membrane potential regulation of ion transmembrane transport ventricular cardiac muscle cell action potential ion transport potassium ion export across plasma membrane potassium ion transport membrane repolarization during action potential potassium ion homeostasis regulation of heart rate by hormone transmembrane transport potassium ion transmembrane transport positive regulation of potassium ion transmembrane transport phosphorelay signal transduction system regulation of membrane repolarization negative regulation of potassium ion transmembrane transport membrane repolarization during cardiac muscle cell action potential regulation of heart rate by cardiac conduction regulation of potassium ion transmembrane transport regulation of ventricular cardiac muscle cell membrane repolarization membrane repolarization during ventricular cardiac muscle cell action potential membrane repolarization negative regulation of potassium ion export across plasma membrane potassium ion import across plasma membrane cardiac conduction Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 3757 16511 Ensembl ENSG00000055118 ENSMUSG00000038319 UniProt Q12809 O35219 RefSeq (mRNA) NM_000238 NM_001204798 NM_172056 NM_172057 NM_001294162 NM_013569 RefSeq (protein) NP_000229 NP_001191727 NP_742053 NP_742054 NP_001281091 NP_038597 Location (UCSC) Chr 7: 150.94 – 150.98 Mb Chr 5: 24.52 – 24.56 Mb PubMed search [3] [4]
Wikidata
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hERG (the human Ether-à-go-go-Related Gene) is a gene (KCNH2) that codes for a protein known as K_v11.1, the alpha subunit of a potassium ion channel. This ion channel (sometimes simply denoted as 'hERG') is best known for its contribution to the electrical activity of the heart: the hERG channel mediates the repolarizing I_Kr current in the cardiac action potential, which helps coordinate the heart's beating.

When this channel's ability to conduct electrical current across the cell membrane is inhibited or compromised, either by application of drugs or by rare mutations in some families,^[5] it can result in a potentially fatal disorder called long QT syndrome. Conversely, genetic mutations that increase the current through these channels can lead to the related inherited heart rhythm disorder short QT syndrome.^[6] A number of clinically successful drugs in the market have had the tendency to inhibit hERG, lengthening the QT and potentially leading to a fatal irregularity of the heartbeat (a ventricular tachyarrhythmia called torsades de pointes). This has made hERG inhibition an important antitarget that must be avoided during drug development.^[7]

hERG has also been associated with modulating the functions of some cells of the nervous system^[8][9] and with establishing and maintaining cancer-like features in leukemic cells.^[10]