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Reviewed June 2013
What is the official name of the KCNJ2 gene?
The official name of this gene is “potassium channel, inwardly rectifying subfamily J, member 2.”
KCNJ2 is the gene's official symbol. The KCNJ2 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 KCNJ2 gene?
The KCNJ2 gene belongs to a large family of genes that produce 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 KCNJ2 protein are active in muscles used for movement (skeletal muscles) and heart (cardiac) muscle. In skeletal muscle, these channels play an important role in the pattern of muscle tensing (contraction) and relaxation that allows the body to move. In the heart, the channels are involved in recharging the cardiac muscle after each heartbeat to maintain a regular rhythm. Channels formed with the KCNJ2 protein may also be involved in bone development, but their role in this process is unclear.
Researchers have determined that a molecule called PIP2 must bind to channels made with the KCNJ2 protein for the channels to function normally. PIP2 activates the ion channel and helps it stay open, which allows ions to flow across the cell membrane.
Does the KCNJ2 gene share characteristics with other genes?
The KCNJ2 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 KCNJ2 gene related to health conditions?
Where is the KCNJ2 gene located?
Cytogenetic Location: 17q24.3
Molecular Location on chromosome 17: base pairs 70,168,615 to 70,180,043
The KCNJ2 gene is located on the long (q) arm of chromosome 17 at position 24.3.
More precisely, the KCNJ2 gene is located from base pair 70,168,615 to base pair 70,180,043 on chromosome 17.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about KCNJ2?
You and your healthcare professional may find the following resources about KCNJ2 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 KCNJ2 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 KCNJ2?
acids ; amino acid ; arrhythmia ; atrial ; atrial fibrillation ; cardiac ; cell ; cell membrane ; channel ; contraction ; fainting ; familial ; fibrillation ; gene ; ions ; ion transport ; isoleucine ; molecule ; muscle cells ; mutation ; potassium ; protein ; skeletal muscle ; syndrome ; valine
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (14 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.