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KCNJ5

KCNJ5

Reviewed April 2014

What is the official name of the KCNJ5 gene?

The official name of this gene is “potassium inwardly-rectifying channel, subfamily J, member 5.”

KCNJ5 is the gene's official symbol. The KCNJ5 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 KCNJ5 gene?

The KCNJ5 gene provides instructions for making a protein that functions as a potassium channel, which means that it transports positively charged atoms (ions) of potassium into and out of cells. Potassium channels produced from the KCNJ5 gene are thought to help regulate production of the hormone aldosterone. In the adrenal glands, which are small hormone-producing glands located on top of each kidney, the channels control the flow of ions into the cell. The flow of ions creates an electrical charge across the cell membrane, which affects the triggering of certain biochemical processes (pathways) that regulate aldosterone production. Aldosterone helps control blood pressure by maintaining proper salt and fluid levels in the body.

Does the KCNJ5 gene share characteristics with other genes?

The KCNJ5 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 KCNJ5 gene related to health conditions?

familial hyperaldosteronism - caused by mutations in the KCNJ5 gene

At least four KCNJ5 gene mutations have been identified in people with familial hyperaldosteronism type III. Familial hyperaldosteronism is a disorder that causes high blood pressure (hypertension). Mutations in the KCNJ5 gene are thought to result in the production of potassium channels that are less selective, allowing other ions (predominantly sodium) to pass as well. The flow of sodium ions into adrenal gland cells affects the electrical charge across the cell membrane, activating another type of channel that allows calcium ions to enter. The influx of calcium ions overactivates a process called the calcium/calmodulin pathway that increases aldosterone production, resulting in excess aldosterone and the hypertension associated with familial hyperaldosteronism type III.

other disorders - associated with the KCNJ5 gene

Some gene mutations are acquired during a person's lifetime and are present only in certain cells. These changes, which are called somatic mutations, are not inherited. Somatic mutations in the KCNJ5 gene have been identified in approximately 40 percent of nonhereditary (sporadic) tumors of the adrenal glands called aldosterone-producing adenomas. These noncancerous (benign) tumors cause hypertension that gets worse over time. As in familial hyperaldosteronism (described above), KCNJ5 gene mutations in cells of the adrenal gland result in increased aldosterone production, leading to hypertension.

Where is the KCNJ5 gene located?

Cytogenetic Location: 11q24

Molecular Location on chromosome 11: base pairs 128,891,417 to 128,921,164

The KCNJ5 gene is located on the long (q) arm of chromosome 11 at position 24.

The KCNJ5 gene is located on the long (q) arm of chromosome 11 at position 24.

More precisely, the KCNJ5 gene is located from base pair 128,891,417 to base pair 128,921,164 on chromosome 11.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about KCNJ5?

You and your healthcare professional may find the following resources about KCNJ5 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 KCNJ5 gene or gene products?

  • cardiac ATP-sensitive potassium channel
  • CIR
  • GIRK4
  • G protein-activated inward rectifier potassium channel 4
  • heart KATP channel
  • inward rectifier K+ channel KIR3.4
  • IRK-4
  • KATP1
  • KIR3.4
  • LQT13

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 KCNJ5?

adrenal glands ; aldosterone ; ATP ; benign ; calcium ; cardiac ; cell ; cell membrane ; channel ; familial ; gene ; hormone ; hypertension ; inherited ; ions ; kidney ; potassium ; protein ; sodium ; sporadic

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (10 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.

 
Reviewed: April 2014
Published: December 22, 2014