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The official name of this gene is “insulin-like growth factor 2.”
IGF2 is the gene's official symbol. The IGF2 gene is also known by other names, listed below.
The IGF2 gene provides instructions for making a protein called insulin-like growth factor 2. This protein plays an essential role in growth and development before birth. Studies suggest that insulin-like growth factor 2 promotes the growth and division (proliferation) of cells in many different tissues. Although the IGF2 gene is highly active during fetal development, it is much less active after birth.
People inherit one copy of most genes from their mother and one copy from their father. Both copies are typically active, or "turned on," in cells. However, the activity of the IGF2 gene depends on which parent it was inherited from. In most tissues, only the copy inherited from a person's father (the paternally inherited copy) is active; the copy inherited from the mother (the maternally inherited copy) is not active. This sort of parent-specific difference in gene activation is caused by a phenomenon called genomic imprinting.
IGF2 is part of a cluster of genes on the short (p) arm of chromosome 11 that undergo genomic imprinting. Another gene in this cluster, H19, is also involved in growth and development. A nearby region of DNA known as imprinting center 1 (IC1) or the H19 differentially methylated region (H19 DMR) controls the parent-specific genomic imprinting of both the IGF2 and H19 genes. The IC1 region undergoes a process called methylation, which is a chemical reaction that attaches small molecules called methyl groups to certain segments of DNA. Methylation, which occurs during the formation of an egg or sperm cell, is a way of marking or "stamping" the parent of origin. The IC1 region is normally methylated only on the paternally inherited copy of chromosome 11.
Beckwith-Wiedemann syndrome, a condition characterized by overgrowth and other signs and symptoms that affect many parts of the body, can result from changes that affect the IC1 region. In some people with this condition, both the maternally inherited copy and the paternally inherited copy of the IC1 region have methyl groups attached (hypermethylation). Because the IC1 region controls the genomic imprinting of the IGF2 and H19 genes, this abnormality disrupts the regulation of both genes. Specifically, hypermethylation of the IC1 region leads to increased activity of the IGF2 gene and a loss of H19 gene activity in many tissues. An increase in IGF2 gene activity, which promotes growth, and a loss of H19 gene activity, which normally restrains growth, together lead to overgrowth in people with Beckwith-Wiedemann syndrome.
In a few cases, Beckwith-Wiedemann syndrome has been caused by deletions of a small amount of DNA from the IC1 region. Like abnormal methylation, these deletions alter the activity of the IGF2 and H19 genes.
Increased activity of the IGF2 gene has been associated with many types of cancer. Normally, the IGF2 gene undergoes genomic imprinting and only the copy inherited from a person's father is active. In some cancers, however, both the paternally inherited and the maternally inherited copies of the gene are active, increasing the amount of insulin-like growth factor 2 that cells can produce. This phenomenon is known as loss of imprinting (LOI). An increased amount of insulin-like growth factor 2 may stimulate the growth of tumor cells and prevent damaged cells from being destroyed.
Loss of imprinting of the IGF2 gene has been identified in several types of cancer known as embryonal tumors. These tumors include a form of kidney cancer called Wilms tumor, a cancer of muscle tissue called rhabdomyosarcoma, and a form of liver cancer called hepatoblastoma. Loss of imprinting of the IGF2 gene has also been found in many other types of cancer, including cancer of blood-forming cells (leukemia) and cancers of the breast, prostate, lung, colon, and liver. In some types of cancer, increased levels of insulin-like growth factor 2 are associated with tumor progression and a poor prognosis.
Changes in methylation of the IC1 region are also responsible for some cases of Russell-Silver syndrome, a disorder characterized by slow growth before and after birth. The changes are different than those seen in Beckwith-Wiedemann syndrome and have the opposite effect on growth.
In Russell-Silver syndrome, the paternally inherited copy of the IC1 region often has too few methyl groups attached (hypomethylation). Hypomethylation of the IC1 region leads to a loss of IGF2 gene activity and increased activity of the H19 gene in many tissues. A loss of IGF2 gene activity, which normally promotes growth, and an increase in H19 gene activity, which restrains growth, together lead to poor growth and short stature in people with Russell-Silver syndrome.
Cytogenetic Location: 11p15.5
Molecular Location on chromosome 11: base pairs 2,129,112 to 2,149,603
The IGF2 gene is located on the short (p) arm of chromosome 11 at position 15.5.
More precisely, the IGF2 gene is located from base pair 2,129,112 to base pair 2,149,603 on chromosome 11.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about IGF2 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
cancer ; cell ; chromosome ; colon ; DNA ; egg ; epigenetic ; gene ; growth factor ; imprinting ; inherit ; inherited ; insulin ; kidney ; leukemia ; liver cancer ; methyl ; methylation ; oncogene ; prognosis ; progression ; proliferation ; prostate ; protein ; rhabdomyosarcoma ; short stature ; sperm ; stature ; syndrome ; tissue ; tumor ; Wilms tumor
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.