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  3. KCNH2

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

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Summary of KCNH2

The KCNH2 gene encodes potassium channels. The channels play key roles cell signaling. Mutations in this gene can cause heart disorders (R). 

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The Function of KCNH2

Pore-forming (alpha) subunit of voltage-gated inwardly rectifying potassium channel. Channel properties are modulated by cAMP and subunit assembly. Mediates the rapidly activating component of the delayed rectifying potassium current in heart (IKr). Isoforms USO have no channel activity by themself, but modulates channel characteristics by forming heterotetramers with other isoforms which are retained intracellularly and undergo ubiquitin-dependent degradation.

Protein names

Recommended name:

Potassium voltage-gated channel subfamily H member 2

Short name:

ERG-1

Alternative name(s):

Eag homolog
Ether-a-go-go-related gene potassium channel 1
Eag-related protein 1
Ether-a-go-go-related protein 1
H-ERG
hERG-1
hERG1
Voltage-gated potassium channel subunit Kv11.1

KCNH2 SNPs

    To see your genotype, you should be logged in and have a file with your genotype uploaded.

  1. RS1036145 (KCNH2) ??
  2. RS1805123 (KCNH2) ??
  3. RS2072413 (KCNH2) ??
  4. RS28928904 (KCNH2) ??
  5. RS28928905 (KCNH2) ??
  6. RS2968863 (KCNH2) ??
  7. RS2968864 (KCNH2) ??
  8. RS36210421 (KCNH2) ??
  9. RS3778872 (KCNH2) ??
  10. RS3800779 (KCNH2) ??
  11. RS3807375 (KCNH2) ??
  12. RS3815459 (KCNH2) ??
  13. RS4725982 (KCNH2) ??
  14. RS748693 (KCNH2) ??
  15. RS9333649 (KCNH2) ??

Top Gene-Substance Interactions

KCNH2 Interacts with These Diseases

Disease Score

Substances That Increase KCNH2

Substances Interaction Organism Category

Substances That Decrease KCNH2

Substances Interaction Organism Category

Advanced Summary

     Romano-Ward syndrome Mutations in the KCNH2 gene are a common cause of Romano-Ward syndrome, often called long QT syndrome. This condition causes the heart (cardiac) muscle to take longer than usual to recharge between beats, which can lead to an abnormal heart rhythm (arrhythmia). More than 500 KCNH2 gene mutations that cause Romano-Ward syndrome have been identified. Some of these mutations change a single protein building block (amino acid) in the KCNH2 protein, while other mutations delete several amino acids from the protein. These changes prevent the protein from assembling into functional ion channels or alter the channels' structure. As a result, the channels cannot properly regulate the flow of potassium ions in cardiac muscle cells. The reduced ion transport alters the transmission of electrical signals in the heart, increasing the risk of an irregular heartbeat that can cause fainting (syncope) or sudden death. short QT syndrome Mutations in the KCNH2 gene can also cause a heart condition called short QT syndrome. In people with this condition, the cardiac muscle takes less time than usual to recharge between beats. This change increases the risk of an abnormal heart rhythm that can cause syncope or sudden death. At least two mutations in the KCNH2 gene have been found to cause short QT syndrome in a small number of affected families. These mutations change single amino acids in the KCNH2 protein. The genetic changes alter the function of ion channels made with the KCNH2 protein, increasing the channels' activity. As a result, more potassium ions flow out of cardiac muscle cells at a critical time during the heartbeat, which can lead to an irregular heart rhythm. other disorders Certain drugs, including medications used to treat arrhythmias, infections, seizures, and psychotic disorders, can lead to an abnormal heart rhythm in some people. This drug-induced heart condition, which is known as acquired long QT syndrome, increases the risk of cardiac arrest and sudden death. A small percentage of cases of acquired long QT syndrome occur in people who have an underlying variation in the KCNH2 gene.

     The KCNH2 gene belongs to a large family of genes that provide instructions for making potassium channels. These channels, which transport positively charged atoms (ions) of potassium out of cells, play key roles in a cell's ability to generate and transmit electrical signals. The specific function of a potassium channel depends on its protein components and its location in the body. Channels made with the KCNH2 protein (also known as hERG1) are active in heart (cardiac) muscle. They are involved in recharging the cardiac muscle after each heartbeat to maintain a regular rhythm. The KCNH2 protein is also produced in nerve cells and certain immune cells (microglia) in the central nervous system. The proteins produced from the KCNH2 gene and another gene, KCNE2, interact to form a functional potassium channel. Four alpha subunits, each produced from the KCNH2 gene, form the structure of each channel. One beta subunit, produced from the KCNE2 gene, attaches (binds) to the channel and regulates its activity.

Conditions with Increased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Conditions with Decreased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Technical

The following transcription factors affect gene expression:

  • NF-kappaB
  • NF-kappaB1
  • Sp1
  • Nkx3-1 v1
  • Nkx3-1

Tissue specificity:

Highly expressed in heart and brain. Isoforms USO are frequently overexpressed in cancer cells.

Gene Pathways:

  • Neuronal System

Induction:

Up-regulated by RNF207 (at protein level).

Molecular Function:

  • C3hc4-Type Ring Finger Domain Binding
  • Delayed Rectifier Potassium Channel Activity
  • Identical Protein Binding
  • Inward Rectifier Potassium Channel Activity
  • Phosphorelay Sensor Kinase Activity
  • Protein Homodimerization Activity
  • Scaffold Protein Binding
  • Ubiquitin Protein Ligase Binding
  • Voltage-Gated Potassium Channel Activity
  • Voltage-Gated Potassium Channel Activity Involved In Cardiac Muscle Cell Action Potential Repolarization
  • Voltage-Gated Potassium Channel Activity Involved In Ventricular Cardiac Muscle Cell Action Potential Repolarization

Biological Processes:

  • Cardiac Conduction
  • Cardiac Muscle Contraction
  • Membrane Depolarization During Action Potential
  • Membrane Repolarization During Action Potential
  • Membrane Repolarization During Cardiac Muscle Cell Action Potential
  • Membrane Repolarization During Ventricular Cardiac Muscle Cell Action Potential
  • Negative Regulation Of Potassium Ion Export
  • Negative Regulation Of Potassium Ion Transmembrane Transport
  • Positive Regulation Of Potassium Ion Transmembrane Transport
  • Potassium Ion Export
  • Potassium Ion Export Across Plasma Membrane
  • Potassium Ion Homeostasis
  • Potassium Ion Transmembrane Transport
  • Regulation Of Heart Rate By Cardiac Conduction
  • Regulation Of Heart Rate By Hormone
  • Regulation Of Membrane Potential
  • Regulation Of Membrane Repolarization
  • Regulation Of Potassium Ion Transmembrane Transport
  • Regulation Of Ventricular Cardiac Muscle Cell Membrane Repolarization
  • Ventricular Cardiac Muscle Cell Action Potential

Drug Bank:

  • Alfuzosin
  • Amsacrine
  • Astemizole
  • Carvedilol
  • Chlorpromazine
  • Ciprofloxacin
  • Cisapride
  • Dofetilide
  • Doxazosin
  • Doxepin
  • Dronedarone
  • Erythromycin
  • Halofantrine
  • Imipramine
  • Miconazole
  • Pimozide
  • Propafenone
  • Sertindole
  • Sotalol
  • Terazosin
  • Thioridazine
  • Verapamil
  • Amiodarone
  • Clarithromycin
  • Ibutilide
  • Prazosin
  • Quinidine
*synonyms

Synonyms/Aliases/Alternative Names of the Gene:

CB1_001387004| cerg| c-ERG| D623_10012665| delayed rectifier potassium channel| derg| eag homolog| eag related protein 1| eag-related protein 1| ERG| ERG1| ERG-1| ether-a-go-go related gene potassium channel 1| Ether-a-go-go-related gene potassium channel 1| ether-a-go-go-related potassium channel protein| ether-a-go-go-related protein 1| gp-erg| herg| H-ERG| herg1| I79_007694| KCNH7| k(v)11.1| kv11.1| LQT| LQT2| M-erg| Merg1| merg1a| merg1b| PAL_GLEAN10007555| potassium channel protein ERG| potassium channel protein ERG short isoform| potassium channel, voltage gated eag related subfamily H, member 2| potassium voltage-gated channel, subfamily H (eag-related), memb| potassium voltage-gated channel, subfamily H (eag-related), member 2| potassium voltage-gated channel, subfamily H (eag-related), member 7| potassium voltage-gated channel, subfamily H , member 2| potassium voltage-gated channel subfamily H member 2-like| ra-erg| r-ERG| RERG| SQT1| UY3_18510| ventricular ERG K+ channel subunit| voltage-gated potassium channel 11.1| voltage-gated potassium channel, subfamily H, member 2| voltage-gated potassium channel subunit Kv11.1| Y1Q_028862| kcnh2

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