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IGF2 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

IGF2 gene

The IGF2 gene plays a vital role in fetal growth and development, and its activity is strictly regulated through a process known as genomic imprinting.

Normal Function

The IGF2 gene provides instructions for making a protein called insulin-like growth factor 2. This protein promotes the growth and division (proliferation) of cells in many different tissues before birth. While highly active during fetal development, the gene is much less active after birth.

The activity of the IGF2 gene depends on whether it is inherited from the sperm or the egg, a process called genomic imprinting. In most cases, only the copy from the sperm cell is active. This is regulated by an imprinting control region, where small molecules called methyl groups are added (a process called methylation) to control gene activity.

Health Conditions Related to Genetic Changes

Beckwith-Wiedemann syndrome

This growth disorder can result from abnormal methylation of the IGF2 imprinting center. When both copies of the imprinting center are methylated, it leads to increased IGF2 activity and decreased H19 activity, causing 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 IGF2 imprinting center inherited from the sperm. This leads to decreased IGF2 activity and increased H19 activity.

Wilms tumor

In some cases of this rare kidney cancer, both copies of the IGF2 imprinting center are methylated. This leads to increased IGF2 protein production, which may stimulate tumor cell growth and prevent damaged cells from being destroyed.

Other cancers

Increased activity of the IGF2 gene is associated with many cancers, including leukemia, rhabdomyosarcoma, hepatoblastoma, and cancers of the breast, prostate, lung, and colon. This is often due to loss of imprinting (LOI), where the copy of the gene that is usually "turned off" becomes active, increasing the amount of insulin-like growth factor 2 produced.

Other Names for This Gene

  • C11orf43
  • GRDF
  • IGF-2
  • IGF-II
  • insulin-like growth factor 2
  • insulin-like growth factor II
  • pp9974
  • somatomedin A

Frequently Asked Questions

IGF2 imprinting defects are usually sporadic epigenetic events, but rare familial cases exist where a parent carries a germline imprinting defect that can be transmitted. Genetic counseling with methylation testing of both parents can clarify inheritance risk. If a parent is found to have an abnormal imprinting pattern, the recurrence risk may be higher (up to 50 % in some imprinting disorders), and prenatal testing or early postnatal methylation analysis can be offered.
Hypomethylation means fewer methyl groups are attached to the IGF2 imprinting control region on the paternal allele, reducing IGF2 expression and contributing to the characteristic growth restriction of Silver‑Russell syndrome (SRS). Management focuses on optimizing growth: early nutritional support, growth hormone therapy (often started after 2‑3 years of age if growth velocity remains low), and regular monitoring of growth parameters, orthopedic issues, and developmental milestones.
Yes. Beckwith‑Wiedemann syndrome (BWS) often results from abnormal methylation of the IGF2 imprinting control region, leading to excess IGF2 activity. Diagnosis is made by molecular testing of blood (or tissue) DNA using methylation‑specific multiplex ligation‑dependent probe amplification (MS‑MLPA) or bisulfite sequencing to assess the methylation status of the IGF2/H19 imprinting center. Positive results, together with clinical features (macroglossia, organomegaly, hemihyperplasia, neonatal hypoglycemia), confirm the diagnosis.
Children with IGF2 over‑methylation (both alleles methylated) have an increased risk of Wilms tumor. Recommended screening includes abdominal ultrasound every 3 months from birth until at least 8 years of age, and sometimes urine testing for hematuria. Early detection improves outcomes, so adherence to the imaging schedule is essential.
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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