EGR2

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Protein-coding gene in the species Homo sapiens

title: "EGR2" type: doc version: 1 created: 2026-02-28 author: "Wikipedia contributors" status: active scope: public tags: ["transcription-factors"] description: "Protein-coding gene in the species Homo sapiens" topic_path: "arts/film" source: "https://en.wikipedia.org/wiki/EGR2" license: "CC BY-SA 4.0" wikipedia_page_id: 0 wikipedia_revision_id: 0

::summary Protein-coding gene in the species Homo sapiens ::

Early growth response protein 2 (EGR2), also known as Krox20, is a transcription factor encoded by the EGR2 gene in humans. It is highly expressed in migrating neural crest cells and later in neural crest-derived cells of the cranial ganglia. Expression of EGR2 is restricted to early hindbrain development, and the gene is evolutionarily conserved among vertebrates, including humans, mice, chicks, and zebrafish. The conservation of its amino acid sequence and embryonic expression pattern underscores its essential role in hindbrain segmentation and neural differentiation.

Structure

The EGR2 protein contains three tandem C2H2-type zinc finger domains that mediate specific DNA binding. These zinc fingers enable EGR2 to function as a transcriptional regulator of genes involved in neural development and myelination.

Function

EGR2 acts as a transcription factor that regulates gene expression during neural development and peripheral nerve myelination. It binds to specific DNA sequences via its zinc finger motifs to control target genes essential for Schwann cell differentiation and myelin sheath formation. It is also expressed in osteoprogenitor cells and has been implicated in the proliferation of Ewing sarcoma–derived cell lines, suggesting a role in both bone biology and tumorigenesis.

Clinical significance

Mutations in EGR2 are associated with several hereditary demyelinating neuropathies, including Charcot–Marie–Tooth disease type 1D, Dejerine–Sottas disease, and congenital hypomyelinating neuropathy. Recent studies have also suggested that EGR2 expression in hair follicle stem cells may influence hair maintenance and pigmentation, with loss of Krox20-expressing cells contributing to male-pattern baldness and graying hair.

Deletion of Egr2 in mice results in loss of protein-coding capacity, including the DNA-binding domain, leading to perinatal lethality and severe hindbrain malformations. These defects include aberrant formation of cranial sensory ganglia, fusion of the trigeminal (V), facial (VII), and auditory (VIII) nerves, and disorganization of their proximal roots as they enter the brainstem.

References

References

  1. "Entrez Gene: EGR2 early growth response 2 (Krox-20 homolog, Drosophila)".
  2. "Scientists find skin cells at the root of balding, gray hair".
  3. (April 1992). "Activation of the zinc finger encoding gene krox-20 in adult rat brain: comparison with zif268". Brain Research. Molecular Brain Research.
  4. (January 1993). "The structure and expression of the Xenopus Krox-20 gene: conserved and divergent patterns of expression in rhombomeres and neural crest". Mechanisms of Development.
  5. (July 2001). "EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy". Neurogenetics.
  6. (July 2013). "Epidermal growth factor receptor (EGFR) signaling promotes proliferation and survival in osteoprogenitors by increasing early growth response 2 (EGR2) expression". The Journal of Biological Chemistry.
  7. (1988). "A gene encoding a protein with zinc fingers is activated during G0/G1 transition in cultured cells". The EMBO Journal.
  8. (February 1989). "Structure, chromosome location, and expression of the mouse zinc finger gene Krox-20: multiple gene products and coregulation with the proto-oncogene c-fos". Molecular and Cellular Biology.
  9. (1990). "The segment-specific gene Krox-20 encodes a transcription factor with binding sites in the promoter region of the Hox-1.4 gene". The EMBO Journal.
  10. (October 1990). "Isolation of the mouse Hox-2.9 gene; analysis of embryonic expression suggests that positional information along the anterior-posterior axis is specified by mesoderm". Development.
  11. (September 2015). "Chimeric EWSR1-FLI1 regulates the Ewing sarcoma susceptibility gene EGR2 via a GGAA microsatellite". Nature Genetics.
  12. (October 1991). "A distinct Hox code for the branchial region of the vertebrate head". Nature.
  13. (September 1989). "Segment-specific expression of a homoeobox-containing gene in the mouse hindbrain". Nature.
  14. (1991). "Conserved segmental expression of Krox-20 in the vertebrate hindbrain and its relationship to lineage restriction". Development.
  15. (March 1993). "Cloning of the zebrafish krox-20 gene (krx-20) and its expression during hindbrain development". Nucleic Acids Research.
  16. (1990). "A homeo domain protein reveals the metameric nature of the developing chick hindbrain". Genes & Development.
  17. (November 1993). "Perinatal lethality and defects in hindbrain development in mice homozygous for a targeted mutation of the zinc finger gene Krox20". Genes & Development.
  18. (1992). "Mapping functional regions of the segment-specific transcription factor Krox-20". Nucleic Acids Research.
  19. (April 1998). "Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies". Nature Genetics.
  20. (February 1989). "Segment-specific expression of a zinc-finger gene in the developing nervous system of the mouse". Nature.
  21. (October 1989). "Segmental expression of Hox-2 homoeobox-containing genes in the developing mouse hindbrain". Nature.

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transcription-factors