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Egr2

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Title: Egr2  
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Subject: Charcot–Marie–Tooth disease, Early growth response proteins, WT1, Epigenetics of autism, Transcription factors
Collection: Transcription Factors
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Egr2

Early growth response 2

PDB rendering based on 1a1i.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols  ; AT591; CMT1D; CMT4E; KROX20
External IDs GeneCards:
RNA expression pattern
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)
RefSeq (protein)
Location (UCSC)
PubMed search

Early growth response protein 2 is a protein that in humans is encoded by the EGR2 gene. The early growth response protein 2 is a transcription factor with three tandem C2H2-type zinc fingers. Mutations in this gene are associated with the autosomal dominant Charcot-Marie-Tooth disease, type 1.[1]

References

  1. ^ "Entrez Gene: EGR2 early growth response 2 (Krox-20 homolog, Drosophila)". 

Further reading

  • Rangnekar VM, Aplin AC, Sukhatme VP (1990). "The serum and TPA responsive promoter and intron-exon structure of EGR2, a human early growth response gene encoding a zinc finger protein". Nucleic Acids Res. 18 (9): 2749–57.  
  • Chavrier P, Janssen-Timmen U, Mattéi MG et al. (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". Mol. Cell. Biol. 9 (2): 787–97.  
  • Joseph LJ, Le Beau MM, Jamieson GA et al. (1988). "Molecular cloning, sequencing, and mapping of EGR2, a human early growth response gene encoding a protein with "zinc-binding finger" structure". Proc. Natl. Acad. Sci. U.S.A. 85 (19): 7164–8.  
  • Topilko P, Schneider-Maunoury S, Levi G et al. (1994). "Krox-20 controls myelination in the peripheral nervous system". Nature 371 (6500): 796–9.  
  • Sham MH, Vesque C, Nonchev S et al. (1993). "The zinc finger gene Krox20 regulates HoxB2 (Hox2.8) during hindbrain segmentation". Cell 72 (2): 183–96.  
  • Levi G, Topilko P, Schneider-Maunoury S et al. (1996). "Role of Krox-20 in endochondral bone formation". Ann. N. Y. Acad. Sci. 785: 288–91.  
  • Warner LE, Mancias P, Butler IJ et al. (1998). "Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies". Nat. Genet. 18 (4): 382–4.  
  • Warner LE, Svaren J, Milbrandt J, Lupski JR (1999). "Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies". Hum. Mol. Genet. 8 (7): 1245–51.  
  • Timmerman V, De Jonghe P, Ceuterick C et al. (1999). "Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype". Neurology 52 (9): 1827–32.  
  • Bellone E, Di Maria E, Soriani S et al. (1999). "A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease". Hum. Mutat. 14 (4): 353–4.  
  • Pareyson D, Taroni F, Botti S et al. (2000). "Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation". Neurology 54 (8): 1696–8.  
  • Gambardella L, Schneider-Maunoury S, Voiculescu O et al. (2000). "Pattern of expression of the transcription factor Krox-20 in mouse hair follicle". Mech. Dev. 96 (2): 215–8.  
  • Yoshihara T, Kanda F, Yamamoto M et al. (2001). "A novel missense mutation in the early growth response 2 gene associated with late-onset Charcot--Marie--Tooth disease type 1". J. Neurol. Sci. 184 (2): 149–53.  
  • Boerkoel CF, Takashima H, Bacino CA et al. (2002). "EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy". Neurogenetics 3 (3): 153–7.  
  • Yang Y, Dong B, Mittelstadt PR et al. (2002). "HIV Tat binds Egr proteins and enhances Egr-dependent transactivation of the Fas ligand promoter". J. Biol. Chem. 277 (22): 19482–7.  
  • Vandenberghe N, Upadhyaya M, Gatignol A et al. (2003). "Frequency of mutations in the early growth response 2 gene associated with peripheral demyelinating neuropathies". J. Med. Genet. 39 (12): e81.  
  • Strausberg RL, Feingold EA, Grouse LH et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903.  
  • Musso M, Balestra P, Taroni F et al. (2003). "Different consequences of EGR2 mutants on the transactivation of human Cx32 promoter". Neurobiol. Dis. 12 (1): 89–95.  
  • Unoki M, Nakamura Y (2003). "EGR2 induces apoptosis in various cancer cell lines by direct transactivation of BNIP3L and BAK". Oncogene 22 (14): 2172–85.  
  • Numakura C, Shirahata E, Yamashita S et al. (2003). "Screening of the early growth response 2 gene in Japanese patients with Charcot-Marie-Tooth disease type 1". J. Neurol. Sci. 210 (1–2): 61–4.  

External links

  • GeneReviews/NCBI/NIH/UW entry on Charcot-Marie-Tooth Neuropathy Type 1
  • GeneReviews/NCBI/NIH/UW entry on Charcot-Marie-Tooth Neuropathy Type 4
  • EGR2 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)


This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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