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Genetics Home Reference: your guide to understanding genetic conditions
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IGF2

Reviewed April 2008

What is the official name of the IGF2 gene?

The official name of this gene is “insulin-like growth factor 2 (somatomedin A).”

IGF2 is the gene's official symbol. The IGF2 gene is also known by other names, listed below.

What is the normal function of the IGF2 gene?

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 in the adult body.

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. For the IGF2 gene, however, the copy that is inherited from a person's father is the only active copy in most parts of the body. 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 (ICR1) or the H19 differentially methylated region (H19 DMR) controls the parent-specific genomic imprinting of both the H19 and IGF2 genes.

How are changes in the IGF2 gene related to health conditions?

Beckwith-Wiedemann syndrome - associated with the IGF2 gene

Beckwith-Wiedemann syndrome often results from changes in a process called methylation that affects the ICR1 region. In genes that undergo genomic imprinting, the parent of origin is often marked, or "stamped," on the gene during the formation of egg and sperm cells. This stamping process, called methylation, is a chemical reaction that attaches small molecules called methyl groups to certain segments of DNA.

In some people with Beckwith-Wiedemann syndrome, the ICR1 region has too many methyl groups attached (hypermethylation). Because the ICR1 region controls the genomic imprinting of the H19 and IGF2 genes, this abnormality disrupts the regulation of both genes. Specifically, hypermethylation of the ICR1 region leads to a loss of H19 gene activity and increased activity of the IGF2 gene in many tissues. A loss of H19 gene activity, which normally restrains growth, and an increase in IGF2 gene activity, which promotes growth, together lead to overgrowth and an increased risk of tumors 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 ICR1 region. Like abnormal methylation, these deletions disrupt the activity of the H19 and IGF2 genes.

cancers - associated with the IGF2 gene

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 paternal and the maternal 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 rare form of kidney cancer called Wilms tumor, a cancer of muscle tissue called rhabdomyosarcoma, and a form of liver cancer called hepatoblastoma. Although these tumors commonly occur in people with Beckwith-Wiedemann syndrome, loss of imprinting of the IGF2 gene has also been seen in people with these tumors who do not have Beckwith-Wiedemann syndrome.

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. Researchers suspect that this genetic change may someday be used to help predict a person's risk of developing these forms of cancer.

Russell-Silver syndrome - associated with the IGF2 gene

Changes in methylation of the ICR1 region are also responsible for some cases of Russell-Silver syndrome. The changes are different than those seen in Beckwith-Wiedemann syndrome and have the opposite effect on growth.

In Russell-Silver syndrome, the ICR1 region often has too few methyl groups attached (hypomethylation). Hypomethylation of the ICR1 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.

other disorders - associated with the IGF2 gene

Normal variations (polymorphisms) in the IGF2 gene may be involved in determining adult height and/or weight. These polymorphisms are changes in single protein building blocks (amino acids) used to make insulin-like growth factor 2. Several studies have found associations between polymorphisms in the IGF2 gene and a person's body mass index (a measure of weight in relation to height). Research has also suggested that IGF2 polymorphisms may be a possible risk factor for eating disorders such as anorexia nervosa, bulimia nervosa, and binge eating disorder. Not all studies, however, have supported these associations. Many genetic and environmental factors determine weight and height, and more research is necessary to determine what effect, if any, polymorphisms in the IGF2 gene have on these characteristics.

Where is the IGF2 gene located?

Cytogenetic Location: 11p15.5

Molecular Location on chromosome 11: base pairs 2,129,116 to 2,149,602

The IGF2 gene is located on the short (p) arm of chromosome 11 at position 15.5.

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 2,129,116 to base pair 2,149,602 on chromosome 11.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about IGF2?

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.

What other names do people use for the IGF2 gene or gene products?

  • C11orf43
  • FLJ22066
  • FLJ44734
  • IGF-2
  • IGF2_HUMAN
  • IGF-II
  • INSIGF
  • insulin-like growth factor 2
  • insulin-like growth factor II
  • insulin-like growth factor type 2
  • pp9974
  • putative insulin-like growth factor II associated protein
  • somatomedin A

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding IGF2?

acids ; body mass index ; cancer ; chromosome ; colon ; DNA ; egg ; epigenetic ; gene ; growth factor ; imprinting ; inherit ; inherited ; insulin ; kidney ; leukemia ; liver cancer ; maternal ; methyl ; methylation ; oncogene ; 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 (http://www.ghr.nlm.nih.gov/glossary).

References

  • Abu-Amero S, Monk D, Frost J, Preece M, Stanier P, Moore GE. The genetic aetiology of Silver-Russell syndrome. J Med Genet. 2008 Apr;45(4):193-9. Epub 2007 Dec 21. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18156438?dopt=Abstract)
  • Bachner-Melman R, Zohar AH, Nemanov L, Heresco-Levy U, Gritsenko I, Ebstein RP. Association between the insulin-like growth factor 2 gene (IGF2) and scores on the Eating Attitudes Test in nonclinical subjects: a family-based study. Am J Psychiatry. 2005 Dec;162(12):2256-62. (http://www.ncbi.nlm.nih.gov/pubmed/16330588?dopt=Abstract)
  • Cui H. Loss of imprinting of IGF2 as an epigenetic marker for the risk of human cancer. Dis Markers. 2007;23(1-2):105-12. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17325430?dopt=Abstract)
  • Delaval K, Wagschal A, Feil R. Epigenetic deregulation of imprinting in congenital diseases of aberrant growth. Bioessays. 2006 May;28(5):453-9. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16615080?dopt=Abstract)
  • Eggermann T, Eggermann K, Schönherr N. Growth retardation versus overgrowth: Silver-Russell syndrome is genetically opposite to Beckwith-Wiedemann syndrome. Trends Genet. 2008 Apr;24(4):195-204. doi: 10.1016/j.tig.2008.01.003. Epub 2008 Mar 7. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18329128?dopt=Abstract)
  • Gaunt TR, Cooper JA, Miller GJ, Day IN, O'Dell SD. Positive associations between single nucleotide polymorphisms in the IGF2 gene region and body mass index in adult males. Hum Mol Genet. 2001 Jul 1;10(14):1491-501. (http://www.ncbi.nlm.nih.gov/pubmed/11448941?dopt=Abstract)
  • Heude B, Ong KK, Luben R, Wareham NJ, Sandhu MS. Study of association between common variation in the insulin-like growth factor 2 gene and indices of obesity and body size in middle-aged men and women. J Clin Endocrinol Metab. 2007 Jul;92(7):2734-8. Epub 2007 May 8. (http://www.ncbi.nlm.nih.gov/pubmed/17488802?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/3481)
  • Pavelic K, Buković D, Pavelić J. The role of insulin-like growth factor 2 and its receptors in human tumors. Mol Med. 2002 Dec;8(12):771-80. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12606812?dopt=Abstract)
  • Sparago A, Cerrato F, Vernucci M, Ferrero GB, Silengo MC, Riccio A. Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome. Nat Genet. 2004 Sep;36(9):958-60. Epub 2004 Aug 15. (http://www.ncbi.nlm.nih.gov/pubmed/15314640?dopt=Abstract)

 

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.

 
Reviewed: April 2008
Published: August 25, 2014