EGR2

From Wikipedia, the free encyclopedia

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

Symbol(s)

EGR2; CMT1D; CMT4E; DKFZp686J1957; FLJ14547; KROX20

External IDs

OMIM: 129010 MGI: 95296 HomoloGene: 20123

Gene ontology
Molecular Function:	• transcription factor activity • protein binding • zinc ion binding • metal ion binding
Cellular Component:	• intracellular • nucleus
Biological Process:	• regulation of transcription, DNA-dependent • brain development • rhythmic behavior • mechanosensory behavior • Schwann cell differentiation • myelination

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_000399 (mRNA)
NP_000390 (protein)

NM_010118 (mRNA)
NP_034248 (protein)

Location

Chr 10: 64.24 - 64.25 Mb

Chr 10: 66.93 - 66.94 Mb

Pubmed search

[1]

[2]

Early growth response 2 (Krox-20 homolog, Drosophila), also known as EGR2, is a human 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]

[edit] References

^ Entrez Gene: EGR2 early growth response 2 (Krox-20 homolog, Drosophila).

[edit] 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. PMID 12736090.

[edit] External links

MeSH EGR2+protein,+human

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

v • d • e

Transcription factors and intracellular receptors

(1) Basic domains

(1.1) Basic leucine zipper (bZIP)	Activating transcription factor (AATF, 1, 2, 3, 4, 5, 6, 7) • AP-1 (c-Fos, FOSB, FOSL1, FOSL2, c-Jun, JUNB, JUND) • BACH (1, 2) • BATF • BLZF1 • C/EBP (α, β, γ, δ, ε, ζ) • CREB (1, 3, L1) • CREM • DBP • DDIT3 • GABPA • HLF • MAF (B, F, G, K) • NFE (2, L1, L2) • NRL • NRF1 • XBP1

(1.2) Basic helix-loop-helix (bHLH)	ATOH1 • AhR • AHRR • ARNT • ASCL1 • BHLHB2 • BMAL (ARNTL, ARNTL2) • CLOCK • EPAS1 • HAND (1, 2) • HES (5, 6) • HEY (1, 2, L) • HES1 • HIF (1A, 3A) • ID (1, 2, 3, 4) • LYL1 • MXD4 • MYCL1 • MYCN • Myogenic regulatory factors (MyoD, Myogenin, MYF5, MYF6) • Neurogenins • NeuroD (1, 2) • NPAS (1, 2, 3) • OLIG (1, 2) • Scleraxis • TAL1 • Twist • USF1

(1.3) bHLH-ZIP	MAX • MITF • MNT • MLX • MXI1 • Myc • SREBP (1, 2)

(1.6) Basic helix-span-helix (bHSH)	AP-2

(2) Zinc finger
DNA-binding domains

(2.1) Nuclear receptor (Cys₄)	subfamily 1 (Thyroid hormone (α, β), CAR, FXR, LXR (α, β), PPAR (α, β/δ, γ), PXR, RAR (α, β, γ), ROR (α, β, γ), Rev-ErbA (α, β), VDR) • subfamily 2 (COUP-TF (I, II), Ear-2, HNF4 (α, γ), PNR, RXR (α, β, γ), Testicular receptor (2, 4), TLX) • subfamily 3 (Steroid hormone (Estrogen (α, β), Estrogen related (α, β, γ), Androgen, Glucocorticoid, Mineralocorticoid, Progesterone)) • subfamily 4 NUR (NGFIB, NOR1, NURR1) • subfamily 5 (LRH-1, SF1) • subfamily 6 (GCNF) • subfamily 0 (DAX1, SHP)

(2.2) Other Cys₄	GATA (1, 2, 3, 4, 5, 6) • MTA (1, 2, 3)

(2.3) Cys₂His₂	ATBF1 • BCL(6, 11A, 11B) • CTCF • E4F1 • EGR (2, 3) • ERV3 • General transcription factors (TFIIA, TFIIB, TFIID, TFIIE, TFIIF: 1, 2, TFIIH: 1, 2, 4, 2I, 3A, 3C1, 3C2) • GFI1 • GLI-Krüppel family (1, 2, 3, YY1) • HIC (1, 2) • HIVEP (1, 2, 3) • IKZF (1, 2, 3) • ILF (2, 3) • KLF (2, 4, 5, 6, 9, 10, 11, 12, 13) • MTF1 • MYT1 • OSR1 • Sp1 • zinc finger ((3, 7, 9, 10, 19, 22, 24, 33B, 34, 35, 41, 43, 44, 51, 74, 143, 146, 148, 165, 202, 217, 219, 238, 239, 259, 267, 268, 281, 295, 318, 330, 346, 350, 365, 366, 384, 451, 452, 471, 593, 638, 649, 655) • Zbtb7 (7A) • ZBT (16, 17, 33)

(2.4) Cys₆	HIVEP1

(2.5) Alternating composition	AIRE • DIDO1 • GRLF1 • ING (1, 2, 4) • JARID (1A, 1B, 1C, 1D, 2) • JMJD1B

(3) Helix-turn-helix
domains

(3.1) Homeo domain	ARX • CDX (1, 2) • CRX • CUTL1 • DLX (3, 4, 5) • EMX2 • EN (1, 2) • FHL (1, 2, 3) • HESX1 • HHEX • HLX • Homeobox (A1, A3, A4, A5, A7, A9, A10, A11, A13, B1, B2, B3, B4, B5, B6, B7, B8, B9, B13, C4, C5, C6, C8, C9, C10, C11, C13, D1, D3, D4, D8, D9, D10, D11, D12, D13) • HOPX • MEIS (1, 2) • MEOX2 • MNX1 • MSX (1, 2) • NANOG • NKX (2-1, 2-5, 3-1) • PHF (3, 6, 10, 17) • POU domain (PIT-1, BRN-3: 1, 2, Octamer transcription factor: 1, 2, 3/4, 6, 7) • OTX (1, 2) • PDX1

(3.2) Paired box	PAX (1, 2, 3, 4, 5, 6, 7, 8, 9)

(3.3) Fork head / winged helix	E2F (1, 2, 3, 4, 5) • FOX proteins (C1, C2, E1, G1, H1, K2, L2, M1, N3, O1A, , O3A, O4, P1, P2, P3)

(3.4) Heat Shock Factors	HSF (1, 2, 4)

(3.5) Tryptophan clusters	ELF (4, 5) • EGF • ELK (1, 3, 4) • ERF • ERG • ETS (1, 2) • ETV (1, 4, 5, 6) • FLI1 • Interferon regulatory factors (1, 2, 3, 4, 5, 6, 7, 8) • MYB • MYBL2

(3.6) TEA domain	transcriptional enhancer factor 1, 2

(4) β-Scaffold factors with
minor groove contacts

(4.1) Rel homology region	NF-κB (NFKB1, NFKB2, REL, RELA, RELB) • NFAT (C1, C2, C3, C4, 5)

(4.2) STAT	STAT (1, 2, 3, 4, 5, 6)

(4.3) p53	p53

(4.4) MADS box	Mef2 (A, B, C, D) • SRF

(4.7) High mobility group	HNF (1A, 1B) • LEF1 • SOX (2, 3, 4, 5, 6, 8, 9, 10, 11, 13, 15, 18) • SRY • SSRP1

(4.10) Cold-shock domain	CSDA, YBX1

(4.11) Runt	CBF (CBFA2T2, CBFA2T3, RUNX1, RUNX2, RUNX3, RUNX1T1)

(0) Other
transcription factors

(0.2) HMGI(Y)	HMGA (1, 2) • HBP1

(0.3) Pocket domain	Rb • RBL1 • RBL2

(0.5) AP-2/EREBP-related factors	Apetala 2 • EREBP • B3

(0.6) Miscellaneous	ARID (1A, 1B, 2, 3A, 3B, 4A) • CAP • IFI (16, 35) • MLL (2, 3, T1) • MNDA • NFI (A, B, C, X) • NFY (A, B, C) • Rho/Sigma • R-SMAD

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EGR2

From Wikipedia, the free encyclopedia

[edit] References

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[edit] External links

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