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Reviewed April 2013
What is the official name of the KCNQ2 gene?
The official name of this gene is “potassium channel, voltage gated KQT-like subfamily Q, member 2.”
KCNQ2 is the gene's official symbol. The KCNQ2 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 KCNQ2 gene?
The KCNQ2 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 KCNQ2 protein are active in nerve cells (neurons) in the brain, where they transport potassium ions out of cells. These channels transmit a particular type of electrical signal called the M-current, which prevents the neuron from continuing to send signals to other neurons. The M-current ensures that the neuron is not constantly active, or excitable.
Potassium channels are made up of several protein components (subunits). Each channel contains four alpha subunits that form the hole (pore) through which potassium ions move. Four alpha subunits from the KCNQ2 gene can form a channel. However, the KCNQ2 alpha subunits can also interact with alpha subunits produced from the KCNQ3 gene to form a functional potassium channel, and these channels transmit a much stronger M-current.
Does the KCNQ2 gene share characteristics with other genes?
The KCNQ2 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 KCNQ2 gene related to health conditions?
Where is the KCNQ2 gene located?
Cytogenetic Location: 20q13.3
Molecular Location on chromosome 20: base pairs 63,400,208 to 63,472,640
The KCNQ2 gene is located on the long (q) arm of chromosome 20 at position 13.3.
More precisely, the KCNQ2 gene is located from base pair 63,400,208 to base pair 63,472,640 on chromosome 20.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about KCNQ2?
You and your healthcare professional may find the following resources about KCNQ2 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 KCNQ2 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 KCNQ2?
benign ; cell ; channel ; disability ; encephalopathy ; epilepsy ; epileptic ; familial ; gene ; hypotonia ; ions ; low muscle tone ; muscle tone ; mutation ; neonatal ; neuron ; potassium ; protein ; subunit ; syndrome ; voltage
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (15 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.