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Genetics Home Reference: your guide to understanding genetic conditions
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EGR2

Reviewed January 2010

What is the official name of the EGR2 gene?

The official name of this gene is “early growth response 2.”

EGR2 is the gene's official symbol. The EGR2 gene is also known by other names, listed below.

What is the normal function of the EGR2 gene?

The EGR2 gene provides instructions for making a protein called early growth response 2, which is part of the early growth response family of proteins. These proteins bind to specific areas of DNA and help control the activity of particular genes. On the basis of this action, the proteins are called transcription factors.

The early growth response 2 protein activates several genes that are involved in the formation and maintenance of myelin, the protective substance that covers nerve cells. Myelin is essential for the efficient transmission of nerve impulses.

How are changes in the EGR2 gene related to health conditions?

Charcot-Marie-Tooth disease - caused by mutations in the EGR2 gene

Mutations in the EGR2 gene can cause two forms of Charcot-Marie-Tooth disease, type 1D or type 4E (sometimes called congenital hypomyelinating neuropathy). These mutations change single protein building blocks (amino acids) in the early growth response 2 protein. As a result, the altered protein cannot bind effectively to DNA, which disrupts the control of genes involved in myelin formation and maintenance. This disruption results in the loss of myelin (demyelination) and impaired transmission of nerve impulses. As a result, the functioning of peripheral nerves that connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, heat, and sound is reduced, causing the signs and symptoms of Charcot-Marie-Tooth disease.

A particular mutation has been identified in individuals with type 1D Charcot-Marie-Tooth disease who also have hearing loss. As a result of this mutation, the amino acid arginine is replaced with the amino acid histidine at protein position 381 (written as Arg381His). Other EGR2 gene mutations cause a severe form of type 1D (sometimes called Dejerine-Sottas syndrome) that begins during infancy or early childhood. One of these mutations replaces the amino acid arginine with the amino acid tryptophan at protein position 359 (written as Arg359Trp). Another replaces the amino acid aspartic acid with the amino acid tyrosine at protein position 383 (Asp383Tyr). It is unclear why these particular mutations cause severe symptoms that begin early in life.

Where is the EGR2 gene located?

Cytogenetic Location: 10q21.1

Molecular Location on chromosome 10: base pairs 62,811,995 to 62,893,516

The EGR2 gene is located on the long (q) arm of chromosome 10 at position 21.1.

The EGR2 gene is located on the long (q) arm of chromosome 10 at position 21.1.

More precisely, the EGR2 gene is located from base pair 62,811,995 to base pair 62,893,516 on chromosome 10.

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 EGR2?

You and your healthcare professional may find the following resources about EGR2 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 EGR2 gene or gene products?

  • early growth response 2 (Krox-20 homolog, Drosophila)
  • EGR2_HUMAN
  • KROX20

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 EGR2?

acids ; amino acid ; arginine ; aspartic acid ; congenital ; demyelination ; DNA ; gene ; histidine ; mutation ; neuropathy ; peripheral ; peripheral nerves ; protein ; sensory cells ; syndrome ; transcription ; tryptophan ; tyrosine

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Dubourg O, Azzedine H, Verny C, Durosier G, Birouk N, Gouider R, Salih M, Bouhouche A, Thiam A, Grid D, Mayer M, Ruberg M, Tazir M, Brice A, LeGuern E. Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease. Neuromolecular Med. 2006;8(1-2):75-86. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16775368?dopt=Abstract)
  • Leblanc SE, Srinivasan R, Ferri C, Mager GM, Gillian-Daniel AL, Wrabetz L, Svaren J. Regulation of cholesterol/lipid biosynthetic genes by Egr2/Krox20 during peripheral nerve myelination. J Neurochem. 2005 May;93(3):737-48. (http://www.ncbi.nlm.nih.gov/pubmed/15836632?dopt=Abstract)
  • Musso M, Balestra P, Taroni F, Bellone E, Mandich P. Different consequences of EGR2 mutants on the transactivation of human Cx32 promoter. Neurobiol Dis. 2003 Feb;12(1):89-95. (http://www.ncbi.nlm.nih.gov/pubmed/12609493?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/1959)
  • Niemann A, Berger P, Suter U. Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease. Neuromolecular Med. 2006;8(1-2):217-42. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16775378?dopt=Abstract)
  • Szigeti K, Wiszniewski W, Saifi GM, Sherman DL, Sule N, Adesina AM, Mancias P, Papasozomenos SCh, Miller G, Keppen L, Daentl D, Brophy PJ, Lupski JR. Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations. Neurogenetics. 2007 Nov;8(4):257-62. Epub 2007 Aug 24. (http://www.ncbi.nlm.nih.gov/pubmed/17717711?dopt=Abstract)
  • Warner LE, Svaren J, Milbrandt J, Lupski JR. Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies. Hum Mol Genet. 1999 Jul;8(7):1245-51. (http://www.ncbi.nlm.nih.gov/pubmed/10369870?dopt=Abstract)
  • Young P, Suter U. The causes of Charcot-Marie-Tooth disease. Cell Mol Life Sci. 2003 Dec;60(12):2547-60. Review. (http://www.ncbi.nlm.nih.gov/pubmed/14685682?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: January 2010
Published: July 28, 2014