EGR2

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EGR2
Protein EGR2 PDB 1a1i.png
Identifiers
Aliases EGR2, AT591, CMT1D, CMT4E, KROX20, early growth response 2
External IDs MGI: 95296 HomoloGene: 20123 GeneCards: 1959
RNA expression pattern
PBB GE EGR2 205249 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000399
NM_001136177
NM_001136178
NM_001136179
NM_001321037

NM_010118

RefSeq (protein)

NP_000390.2
NP_001129649.1
NP_001129650.1
NP_001129651.1
NP_001307966.1

NP_034248.2

Location (UCSC) Chr 10: 62.81 – 62.92 Mb Chr 10: 67.54 – 67.54 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Early growth response protein 2 is a protein that in humans is encoded by the EGR2 gene.

Function[edit]

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 1D,[3] Dejerine–Sottas disease,[4] and Congenital Hypomyelinating Neuropathy.[5] Two studies have linked EGR2 expression to proliferation of osteoprogenitors [6] and cell lines derived from Ewing sarcoma, which is a highly aggressive bone-associated cancer. [7]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ "Entrez Gene: EGR2 early growth response 2 (Krox-20 homolog, Drosophila)". 
  4. ^ Boerkoel CF, Takashima H, Bacino CA, Daentl D, Lupski JR (Jul 2001). "EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy". Neurogenetics. 3 (3): 153–7. doi:10.1007/s100480100107. PMID 11523566. 
  5. ^ Warner LE, Mancias P, Butler IJ, McDonald CM, Keppen L, Koob KG, Lupski JR (Apr 1998). "Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies". Nature Genetics. 18 (4): 382–384. doi:10.1038/ng0498-382. PMID 9537424. 
  6. ^ Chandra, Abhishek; Lan, Shenghui; Zhu, Ji; Siclari, Valerie A.; Qin, Ling (2013-07-12). "Epidermal Growth Factor Receptor (EGFR) Signaling Promotes Proliferation and Survival in Osteoprogenitors by Increasing Early Growth Response 2 (EGR2) Expression". Journal of Biological Chemistry. 288 (28): 20488–20498. doi:10.1074/jbc.M112.447250. ISSN 0021-9258. PMC 3711314free to read. PMID 23720781. 
  7. ^ Grünewald, Thomas G P; Bernard, Virginie; Gilardi-Hebenstreit, Pascale; Raynal, Virginie; Surdez, Didier; Aynaud, Marie-Ming; Mirabeau, Olivier; Cidre-Aranaz, Florencia; Tirode, Franck. "Chimeric EWSR1-FLI1 regulates the Ewing sarcoma susceptibility gene EGR2 via a GGAA microsatellite". Nature Genetics. 47 (9): 1073–1078. doi:10.1038/ng.3363. PMC 4591073free to read. PMID 26214589. 

Further reading[edit]

External links[edit]

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