H19 gene
The H19 gene produces a noncoding RNA molecule that acts as a tumor suppressor and plays a critical role in early growth and development through genomic imprinting.
Normal Function
The H19 gene provides instructions for making a noncoding RNA molecule, which does not contain instructions for making a protein. This RNA is believed to act as a tumor suppressor, preventing cells from growing or dividing in an uncontrolled way. The gene is highly active in various tissues before birth.
The activity of the H19 gene is regulated by genomic imprinting, a process where gene expression depends on whether the gene is inherited from the egg or the sperm. Typically, only the copy inherited from the egg is active. This process is controlled by an imprinting control region, where the addition of methyl groups (methylation) typically occurs only on the copy derived from the sperm.
Health Conditions Related to Genetic Changes
Beckwith-Wiedemann syndrome
This growth disorder can be caused by abnormalities in imprinting centers. In some cases, both copies of the H19 imprinting center are methylated, which decreases H19 activity and increases IGF2 gene activity. This imbalance leads to the overgrowth characteristic of the syndrome.
Silver-Russell syndrome
This disorder, characterized by slow growth, is often caused by hypomethylation (fewer methyl groups than normal) of the H19 imprinting center derived from the sperm. This leads to increased H19 activity and decreased IGF2 activity, resulting in slow growth.
Wilms tumor
In some cases of this rare kidney cancer, both copies of the H19 imprinting center are methylated. This leads to decreased H19 activity and increased IGF2 activity, which can cause uncontrolled cell growth. These changes are often somatic, meaning they are acquired during a person's lifetime and are present only in the kidneys.
Breast cancer
The H19 gene is also associated with breast cancer.
Other Names for This Gene
- ASM
- D11S813E
- H19, imprinted maternally expressed transcript (non-protein coding)
- LINC00008
- MIR675HG
- NCRNA00008
Genomic Location
The H19 gene is found on chromosome 11.
