EGR2
| 早期生长应答蛋白2 Early growth response 2 | |||||||||||||
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 PDB rendering based on 1a1i. | |||||||||||||
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| 标识 | |||||||||||||
| 代号 | EGR2; AT591; CMT1D; CMT4E; KROX20 | ||||||||||||
| 扩展标识 | 遗传学：129010 鼠基因：95296 同源基因：20123 GeneCards: EGR2 Gene | ||||||||||||
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| 直系同源体 | |||||||||||||
| 物种 | 人类 | 小鼠 | |||||||||||
| Entrez | 1959 | 13654 | |||||||||||
| Ensembl | ENSG00000122877 | ENSMUSG00000037868 | |||||||||||
| UniProt | P11161 | P08152 | |||||||||||
| mRNA序列 | NM_000399 | NM_010118 | |||||||||||
| 蛋白序列 | NP_000390 | NP_034248 | |||||||||||
| 基因位置 | Chr 10: 64.57 – 64.68 Mb | Chr 10: 67.54 – 67.54 Mb | |||||||||||
| PubMed查询 | [1] | [2] | |||||||||||
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早期生长反应蛋白2（英語：Early growth response protein 2，EGR-2）是一个由人类基因EGR2编码的蛋白质。
EGR2是一个转录因子，包含三个串联的Cys2His2型锌指结构，该基因的多态性与I型进行性神经性腓骨肌萎缩症有关[1]。
参考文献
- ^ Entrez Gene: EGR2 early growth response 2 (Krox-20 homolog, Drosophila). （原始内容存档于2019-10-16）.
延伸阅读
- Rangnekar VM, Aplin AC, Sukhatme VP. 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. 1990, 18 (9): 2749–57. PMC 330760
. PMID 2111009. doi:10.1093/nar/18.9.2749. - Chavrier P; Janssen-Timmen U; Mattéi MG; et al. 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. 1989, 9 (2): 787–97. PMC 362656 . PMID 2496302.
- Joseph LJ; Le Beau MM; Jamieson GA; et al. 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. 1988, 85 (19): 7164–8. PMC 282144 . PMID 3140236. doi:10.1073/pnas.85.19.7164.
- Topilko P; Schneider-Maunoury S; Levi G; et al. Krox-20 controls myelination in the peripheral nervous system. Nature. 1994, 371 (6500): 796–9. PMID 7935840. doi:10.1038/371796a0.
- Sham MH; Vesque C; Nonchev S; et al. The zinc finger gene Krox20 regulates HoxB2 (Hox2.8) during hindbrain segmentation. Cell. 1993, 72 (2): 183–96. PMID 8093858. doi:10.1016/0092-8674(93)90659-E.
- Levi G; Topilko P; Schneider-Maunoury S; et al. Role of Krox-20 in endochondral bone formation. Ann. N. Y. Acad. Sci. 1996, 785: 288–91. PMID 8702157. doi:10.1111/j.1749-6632.1996.tb56286.x.
- Warner LE; Mancias P; Butler IJ; et al. Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. Nat. Genet. 1998, 18 (4): 382–4. PMID 9537424. doi:10.1038/ng0498-382.
- Warner LE, Svaren J, Milbrandt J, Lupski JR. Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies. Hum. Mol. Genet. 1999, 8 (7): 1245–51. PMID 10369870. doi:10.1093/hmg/8.7.1245.
- Timmerman V; De Jonghe P; Ceuterick C; et al. Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype. Neurology. 1999, 52 (9): 1827–32. PMID 10371530.
- Bellone E; Di Maria E; Soriani S; et al. A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease. Hum. Mutat. 1999, 14 (4): 353–4. PMID 10502832. doi:10.1002/(SICI)1098-1004(199910)14:4<353::AID-HUMU17>3.0.CO;2-4.
- Pareyson D; Taroni F; Botti S; et al. Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation. Neurology. 2000, 54 (8): 1696–8. PMID 10762521.
- Gambardella L; Schneider-Maunoury S; Voiculescu O; et al. Pattern of expression of the transcription factor Krox-20 in mouse hair follicle. Mech. Dev. 2000, 96 (2): 215–8. PMID 10960786. doi:10.1016/S0925-4773(00)00398-1.
- Yoshihara T; Kanda F; Yamamoto M; et al. A novel missense mutation in the early growth response 2 gene associated with late-onset Charcot--Marie--Tooth disease type 1. J. Neurol. Sci. 2001, 184 (2): 149–53. PMID 11239949. doi:10.1016/S0022-510X(00)00504-9.
- Boerkoel CF; Takashima H; Bacino CA; et al. EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy. Neurogenetics. 2002, 3 (3): 153–7. PMID 11523566. doi:10.1007/s100480100107.
- Yang Y; Dong B; Mittelstadt PR; et al. HIV Tat binds Egr proteins and enhances Egr-dependent transactivation of the Fas ligand promoter. J. Biol. Chem. 2002, 277 (22): 19482–7. PMID 11909874. doi:10.1074/jbc.M201687200.
- Vandenberghe N; Upadhyaya M; Gatignol A; et al. Frequency of mutations in the early growth response 2 gene associated with peripheral demyelinating neuropathies. J. Med. Genet. 2003, 39 (12): e81. PMC 1757229 . PMID 12471219. doi:10.1136/jmg.39.12.e81.
- Strausberg RL; Feingold EA; Grouse LH; et al. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proc. Natl. Acad. Sci. U.S.A. 2003, 99 (26): 16899–903. PMC 139241 . PMID 12477932. doi:10.1073/pnas.242603899.
- Musso M; Balestra P; Taroni F; et al. Different consequences of EGR2 mutants on the transactivation of human Cx32 promoter. Neurobiol. Dis. 2003, 12 (1): 89–95. PMID 12609493. doi:10.1016/S0969-9961(02)00018-9.
- Unoki M, Nakamura Y. EGR2 induces apoptosis in various cancer cell lines by direct transactivation of BNIP3L and BAK. Oncogene. 2003, 22 (14): 2172–85. PMID 12687019. doi:10.1038/sj.onc.1206222.
- Numakura C; Shirahata E; Yamashita S; et al. Screening of the early growth response 2 gene in Japanese patients with Charcot-Marie-Tooth disease type 1. J. Neurol. Sci. 2003, 210 (1–2): 61–4. PMID 12736090. doi:10.1016/S0022-510X(03)00028-5.
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外部链接
- GeneReviews/NCBI/NIH/UW entry on Charcot-Marie-Tooth Neuropathy Type 1（页面存档备份，存于互联网档案馆）
- GeneReviews/NCBI/NIH/UW entry on Charcot-Marie-Tooth Neuropathy Type 4（页面存档备份，存于互联网档案馆）
- 醫學主題詞表（MeSH）：EGR2+protein,+human
EGR2引用了美国国家医学图书馆提供的資料，这些資料属于公共领域。
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