EGR2

EGR2
Identifiers
Aliases	EGR2, AT591, CMT1D, CMT4E, KROX20, early growth response 2
External IDs	MGI: 95296 HomoloGene: 20123 GeneCards: EGR2
Gene ontology Molecular function • DNA binding • transcription factor activity, sequence-specific DNA binding • HMG box domain binding • transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding • chromatin binding • metal ion binding • RNA polymerase II activating transcription factor binding • RNA polymerase II core promoter proximal region sequence-specific DNA binding • ligase activity • protein binding • nucleic acid binding • transcription regulatory region DNA binding • ubiquitin protein ligase binding Cellular component • cytoplasm • nucleus Biological process • cellular response to organic substance • rhythmic behavior • peripheral nervous system development • regulation of transcription, DNA-templated • rhombomere 3 development • brain segmentation • transcription from RNA polymerase II promoter • protein sumoylation • rhombomere 3 formation • transcription, DNA-templated • response to insulin • positive regulation of transcription, DNA-templated • brain development • rhombomere 5 formation • protein export from nucleus • learning or memory • skeletal muscle cell differentiation • Schwann cell differentiation • regulation of neuronal synaptic plasticity • myelination • facial nerve structural organization • regulation of ossification • motor neuron axon guidance • fat cell differentiation • positive regulation of transcription from RNA polymerase II promoter Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	1959	13654
Ensembl	ENSG00000122877	ENSMUSG00000037868
UniProt	P11161	P08152
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

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

Function

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

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 3711314. 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 4591073. PMID 26214589.

Further reading

• Rangnekar VM, Aplin AC, Sukhatme VP (May 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 Research. 18 (9): 2749–57. doi:10.1093/nar/18.9.2749. PMC 330760. PMID 2111009.
• Chavrier P, Janssen-Timmen U, Mattéi MG, Zerial M, Bravo R, Charnay P (Feb 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 (2): 787–97. doi:10.1128/mcb.9.2.787. PMC 362656. PMID 2496302.
• Joseph LJ, Le Beau MM, Jamieson GA, Acharya S, Shows TB, Rowley JD, Sukhatme VP (Oct 1988). "Molecular cloning, sequencing, and mapping of EGR2, a human early growth response gene encoding a protein with "zinc-binding finger" structure". Proceedings of the National Academy of Sciences of the United States of America. 85 (19): 7164–8. doi:10.1073/pnas.85.19.7164. PMC 282144. PMID 3140236.
• Topilko P, Schneider-Maunoury S, Levi G, Baron-Van Evercooren A, Chennoufi AB, Seitanidou T, Babinet C, Charnay P (Oct 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, Marshall H, Frain M, Gupta RD, Whiting J, Wilkinson D, Charnay P, Krumlauf R (Jan 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, Lasagna M, Mantero S, Pesce B, Ghersi G, Cancedda R, Charnay P (Jun 1996). "Role of Krox-20 in endochondral bone formation". Annals of the New York Academy of Sciences. 785: 288–91. doi:10.1111/j.1749-6632.1996.tb56286.x. PMID 8702157.
• 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): 382–4. doi:10.1038/ng0498-382. PMID 9537424.
• Warner LE, Svaren J, Milbrandt J, Lupski JR (Jul 1999). "Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies". Human Molecular Genetics. 8 (7): 1245–51. doi:10.1093/hmg/8.7.1245. PMID 10369870.
• Timmerman V, De Jonghe P, Ceuterick C, De Vriendt E, Löfgren A, Nelis E, Warner LE, Lupski JR, Martin JJ, Van Broeckhoven C (Jun 1999). "Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype". Neurology. 52 (9): 1827–32. doi:10.1212/wnl.52.9.1827. PMID 10371530.
• Bellone E, Di Maria E, Soriani S, Varese A, Doria LL, Ajmar F, Mandich P (Oct 1999). "A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease". Human Mutation. 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, Morbin M, Baratta S, Lauria G, Ciano C, Sghirlanzoni A (Apr 2000). "Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation". Neurology. 54 (8): 1696–8. doi:10.1212/wnl.54.8.1696. PMID 10762521.
• Gambardella L, Schneider-Maunoury S, Voiculescu O, Charnay P, Barrandon Y (Sep 2000). "Pattern of expression of the transcription factor Krox-20 in mouse hair follicle". Mechanisms of Development. 96 (2): 215–8. doi:10.1016/S0925-4773(00)00398-1. PMID 10960786.
• Yoshihara T, Kanda F, Yamamoto M, Ishihara H, Misu K, Hattori N, Chihara K, Sobue G (Mar 2001). "A novel missense mutation in the early growth response 2 gene associated with late-onset Charcot--Marie--Tooth disease type 1". Journal of the Neurological Sciences. 184 (2): 149–53. doi:10.1016/S0022-510X(00)00504-9. PMID 11239949.
• 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.
• Yang Y, Dong B, Mittelstadt PR, Xiao H, Ashwell JD (May 2002). "HIV Tat binds Egr proteins and enhances Egr-dependent transactivation of the Fas ligand promoter". The Journal of Biological Chemistry. 277 (22): 19482–7. doi:10.1074/jbc.M201687200. PMID 11909874.
• Vandenberghe N, Upadhyaya M, Gatignol A, Boutrand L, Boucherat M, Chazot G, Vandenberghe A, Latour P (Dec 2002). "Frequency of mutations in the early growth response 2 gene associated with peripheral demyelinating neuropathies". Journal of Medical Genetics. 39 (12): e81. doi:10.1136/jmg.39.12.e81. PMC 1757229. PMID 12471219.
• Musso M, Balestra P, Taroni F, Bellone E, Mandich P (Feb 2003). "Different consequences of EGR2 mutants on the transactivation of human Cx32 promoter". Neurobiology of Disease. 12 (1): 89–95. doi:10.1016/S0969-9961(02)00018-9. PMID 12609493.
• Unoki M, Nakamura Y (Apr 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, Kanai M, Kijima K, Matsuki T, Hayasaka K (Jun 2003). "Screening of the early growth response 2 gene in Japanese patients with Charcot-Marie-Tooth disease type 1". Journal of the Neurological Sciences. 210 (1-2): 61–4. doi:10.1016/S0022-510X(03)00028-5. PMID 12736090.

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.