Reviewed April 2007
What is the official name of the EGR2 gene?
The official name of this gene is “early growth response 2 (Krox-20 homolog, Drosophila).”
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 referred to as transcription factors.
The early growth response 2 protein activates several genes that are involved in the formation and maintenance of myelin, the fatty substance that covers and protects nerve cells. Myelin promotes the efficient transmission of nerve impulses. If myelin is lost (demyelination) or its structure is disrupted, the transmission of nerve impulses is impaired.
How are changes in the EGR2 gene related to health conditions?
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Charcot-Marie-Tooth disease - caused by mutations in the EGR2 gene
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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 replace one of the protein building blocks (amino acids) used to make early growth response 2 with an incorrect amino acid. 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 impairs the transmission of nerve impulses, leading to the 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 mutations cause a severe form of type 1D (sometimes called Dejerine-Sottas syndrome) that begins during infancy or early childhood. As a result of these mutations, the amino acid arginine is replaced by the amino acid tryptophan at protein position 359 (written as Arg359Trp) or the amino acid aspartic acid is replaced by the amino acid tryptophan at protein position 383 (Asp383Tyr). Researchers do not yet understand 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 64,241,762 to 64,246,132
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 64,241,762 to base pair 64,246,132 on chromosome 10.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about EGR2?
You and your healthcare professional may find the following resources about EGR2 helpful.
- Educational resources - Information pages
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Gene Tests - DNA tests ordered by healthcare professionals (2 links)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed
- Recent literature
- OMIM
- Genetic disorder catalog
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What other names do people use for the EGR2 gene or gene products?
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding EGR2?
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? in the Handbook.