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Reviewed January 2007
What is the official name of the KCNH2 gene?
The official name of this gene is “potassium voltage-gated channel, subfamily H (eag-related), member 2.”
KCNH2 is the gene's official symbol. The KCNH2 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of 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 into and out of cells, play a key role 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 are active in heart (cardiac) muscle, where they transport potassium ions out of cells. This form of ion transport is 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, binds to the channel and regulates its activity.
Does the KCNH2 gene share characteristics with other genes?
The KCNH2 gene belongs to a family of genes called KCN (potassium channels).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.
How are changes in the KCNH2 gene related to health conditions?
Where is the KCNH2 gene located?
Cytogenetic Location: 7q36.1
Molecular Location on chromosome 7: base pairs 150,642,043 to 150,675,401
The KCNH2 gene is located on the long (q) arm of chromosome 7 at position 36.1.
More precisely, the KCNH2 gene is located from base pair 150,642,043 to base pair 150,675,401 on chromosome 7.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about KCNH2?
You and your healthcare professional may find the following resources about KCNH2 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the KCNH2 gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding KCNH2?
acids ; amino acid ; arrhythmia ; cardiac ; cardiac arrest ; cell ; central nervous system ; channel ; fainting ; gene ; ions ; ion transport ; long QT syndrome ; microglia ; mutation ; nervous system ; potassium ; protein ; psychotic ; subunit ; syncope ; syndrome ; voltage
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (13 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.