The Full Wiki

More info on EGR2

EGR2: Wikis

Advertisements

Note: Many of our articles have direct quotes from sources you can cite, within the Wikipedia article! This article doesn't yet, but we're working on it! See more info or our list of citable articles.

Encyclopedia

From Wikipedia, the free encyclopedia

edit
Early growth response 2 (Krox-20 homolog, Drosophila)

PDB rendering based on 1a1i.
Available structures
1a1i, 1a1j, 1a1k, 1a1l, 1aay, 1jk1, 1jk2, 1p47, 1zaa
Identifiers
Symbols EGR2; CMT1D; CMT4E; DKFZp686J1957; FLJ14547; KROX20
External IDs OMIM129010 MGI95296 HomoloGene20123 GeneCards: EGR2 Gene
RNA expression pattern
PBB GE EGR2 205249 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 1959 13654
Ensembl ENSG00000122877 ENSMUSG00000037868
UniProt P11161 Q3U207
RefSeq (mRNA) NM_000399 NM_010118
RefSeq (protein) NP_000390 NP_034248
Location (UCSC) Chr 10:
64.24 - 64.25 Mb
Chr 10:
66.93 - 66.94 Mb
PubMed search [1] [2]

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

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. doi:10.1093/nar/18.9.2749. PMID 2111009.  
  • 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. PMID 2496302.  
  • 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. doi:10.1073/pnas.85.19.7164. PMID 3140236.  
  • Topilko P, Schneider-Maunoury S, Levi G, et al. (1994). "Krox-20 controls myelination in the peripheral nervous system.". Nature 371 (6500): 796–9. doi:10.1038/371796a0. PMID 7935840.  
  • 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. doi:10.1016/0092-8674(93)90659-E. PMID 8093858.  
  • 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. PMID 8702157.  
  • 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. doi:10.1038/ng0498-382. PMID 9537424.  
  • 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. doi:10.1093/hmg/8.7.1245. PMID 10369870.  
  • 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. PMID 10371530.  
  • 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. doi:10.1002/(SICI)1098-1004(199910)14:4<353::AID-HUMU17>3.0.CO;2-4. PMID 10502832.  
  • 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. PMID 10762521.  
  • 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. doi:10.1016/S0925-4773(00)00398-1. PMID 10960786.  
  • 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. doi:10.1016/S0022-510X(00)00504-9. PMID 11239949.  
  • Boerkoel CF, Takashima H, Bacino CA, et al. (2002). "EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy.". Neurogenetics 3 (3): 153–7. doi:10.1007/s100480100107. PMID 11523566.  
  • 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. doi:10.1074/jbc.M201687200. PMID 11909874.  
  • 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. doi:10.1136/jmg.39.12.e81. PMID 12471219.  
  • 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. doi:10.1073/pnas.242603899. PMID 12477932.  
  • 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. doi:10.1016/S0969-9961(02)00018-9. PMID 12609493.  
  • 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. doi:10.1038/sj.onc.1206222. PMID 12687019.  
  • 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. doi:10.1016/S0022-510X(03)00028-5. PMID 12736090.  

External links

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

Advertisements

Advertisements






Got something to say? Make a comment.
Your name
Your email address
Message