EGR2

早期生长反应蛋白2（英语：Early growth response protein 2，EGR-2）是一个由人类基因EGR2编码的蛋白质。

早期生长应答蛋白2 Early growth response 2
PDB rendering based on 1a1i.
有效结构 PDB 直系同源检索：PDBe, RCSB PDB查询代码列表 1a1i, 1a1j, 1a1k, 1a1l, 1aay, 1jk1, 1jk2, 1p47, 1zaa
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
基因本体论描述 分子功能 · RNA polymerase II activating transcription factor binding · chromatin binding · sequence-specific DNA binding transcription factor activity · protein binding · zinc ion binding · ligase activity · ubiquitin protein ligase binding · transcription regulatory region DNA binding · HMG box domain binding 细胞成分 · nucleus · cytoplasm 生物过程 · transcription from RNA polymerase II promoter · protein export from nucleus · brain development · peripheral nervous system development · learning or memory · rhythmic behavior · motor neuron axon guidance · Schwann cell differentiation · protein sumoylation · facial nerve structural organization · rhombomere 3 formation · rhombomere 5 formation · regulation of ossification · response to insulin stimulus · brain segmentation · myelination · fat cell differentiation · positive regulation of transcription, DNA-dependent · positive regulation of transcription from RNA polymerase II promoter · regulation of neuronal synaptic plasticity · cellular response to organic substance Sources: Amigo / QuickGO
RNA表达模式
更多表达数据
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]

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。

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. 

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）
• 医学主题词表（MeSH）：EGR2+protein,+human

EGR2引用了美国国家医学图书馆提供的资料，这些资料属于公共领域。