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KCNQ1OT1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

KCNQ1OT1 gene

The KCNQ1OT1 gene produces a noncoding RNA molecule that plays a critical role in regulating growth and development before birth through genomic imprinting.

Overview

The KCNQ1OT1 gene (KCNQ1 opposite strand/antisense transcript 1) is located within the KCNQ1 gene. Because these two genes share a region of overlapping DNA and are read in opposite directions, they have distinct functions. Unlike the KCNQ1 gene, which provides instructions for making a protein that acts as a potassium channel, the KCNQ1OT1 gene does not contain instructions for making a protein. Instead, it produces a noncoding RNA molecule that helps regulate genes essential for normal growth and development before birth.

Genomic Imprinting

The activity of the KCNQ1OT1 gene is determined by genomic imprinting, a phenomenon where gene activation depends on which parent the gene was inherited from. Only the copy inherited from the father (paternally inherited) is active; the copy inherited from the mother (maternally inherited) is not active.

This gene is part of a cluster on chromosome 11 controlled by an imprinting center 2 (IC2), also known as KvDMR. This region undergoes methylation—a chemical process that attaches methyl groups to DNA—during the formation of egg or sperm cells. The IC2 region is normally methylated only on the maternally inherited copy of chromosome 11.

Health Conditions Related to Genetic Changes

Beckwith-Wiedemann syndrome

Beckwith-Wiedemann syndrome is characterized by overgrowth and other symptoms affecting various parts of the body. At least half of all cases result from changes in the methylation of the IC2 region:

  • Hypomethylation: The maternally inherited copy of the IC2 region has too few methyl groups. This disrupts the regulation of nearby genes, leading to increased activity of the KCNQ1OT1 gene and reduced activity of other growth-regulating genes.
  • Deletions: In some cases, a small amount of DNA is deleted from the maternally inherited copy of the IC2 region, which also disrupts the activity of KCNQ1OT1 and other genes.

Frequently Asked Questions

lthough KCNQ1OT1 is located within the KCNQ1 gene region, they are read in opposite directions and have distinct functions. The KCNQ1 gene provides instructions for making a protein that acts as a potassium channel, whereas KCNQ1OT1 produces a noncoding RNA molecule. This RNA does not make a protein but instead regulates the activity of other genes essential for normal growth and development before birth.
Beckwith-Wiedemann syndrome can result from hypomethylation of the maternally inherited IC2 region, meaning there are too few methyl groups attached to the DNA. This disruption interferes with the normal regulation of nearby genes, including KCNQ1OT1, leading to increased activity of growth-related genes. This overactivity causes the characteristic overgrowth and other symptoms associated with the syndrome.
Genomic imprinting determines which copy of the KCNQ1OT1 gene is active based on parental origin. Only the copy inherited from the father is active, while the copy inherited from the mother is silenced. This regulation is controlled by the imprinting center 2 (IC2) region on chromosome 11, which undergoes specific methylation patterns during the formation of egg or sperm cells to ensure proper gene expression.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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