EGR2

EGR2
식별자
에일리어스	EGR2, AT591, CMT1D, CMT4E, KROX20, 조기 성장 응답 2, CHN1
외부 ID	OMIM: 129010 MGI: 95296 HomoloGene: 20123 GeneCard: EGR2
유전자 위치(인간)
크르.	10번 염색체(인간)
끝.	62,819,120 bp
유전자 위치(마우스)
크르.	10번 염색체(쥐)
끝.	67,542,188 bp
RNA발현패턴
	상단 표시 위치:
	담낭; ; 경골 신경; ; 단구; ; 위점막; ; 평활근 조직; ; 상부 신경; ; 복부 피부; ; 림프절; ; 부록; ; 뇌하수체 전엽;
	추가 참조 표현식 데이터
	추가 참조 표현식 데이터
유전자 존재론
분자 함수	DNA결합; GO:0001131, GO:000115, GO:0001130, GO:0001204 DNA결합전사인자액티비티; HMG 박스 도메인 바인딩; GO:0001077, GO:0001212, GO:0001213, GO:0001211, GO:0001205 DNA결합전사활성화제, RNA중합효소II 특이적; 크로마틴 결합; 금속 이온 결합; GO:0000980 RNA중합효소II 시스조절영역배열특이적 DNA결합; GO:0001948 단백질 결합; 핵산 결합; 유비퀴틴단백질리가수분해효소결합; 트랜스페라아제 활성; GO:0001200, GO:0001133, GO:0001201 DNA결합전사인자활성, RNA중합효소II 특이적; 스모리가수분해효소활성;
셀룰러 컴포넌트	세포질; 핵; 핵소체; 세포막내소기관;
생물학적 과정	유기물에 대한 세포 반응; 리드미컬한 행동; 말초 신경계 발달; 전사조절, DNA템플릿화; 마름모세포3발달; 뇌분할; RNA중합효소II에 의한 전사; 단백질수모일화; 마름모세포3형성; 전사, DNA 템플릿; 인슐린에 대한 반응; 전사의 양성 조절, DNA 템플릿화; 뇌의 발달; 마름모세포5형성; 핵으로부터의 단백질 수출; 학습 또는 기억; 골격근세포분화; 슈반세포분화; 신경 시냅스 가소성 조절; 미엘리네이션; 안면 신경의 구조 조직; 골화 조절; 운동뉴런축삭유도; 지방세포분화; RNA중합효소II에 의한 전사의 양성 조절; RNA중합효소II에 의한 전사조절;
	출처:아미고 / QuickGO
맞춤법
	1959
	13654
	ENSG00000122877
	ENSMUSG000037868
	P11161
	P08152
	NM_000399; NM_001136177; NM_001136178; NM_001136179; NM_001321037
	NM_010118; NM_001347458
	NP_000390; NP_001129649; NP_001129650; NP_001129651; NP_001307966
NP_001334387; NP_034248; NP_001360912; NP_001360914; NP_001360915;
	NP_001360916
	위키데이터
인간 보기/편집	마우스 표시/편집

조기성장응답단백질2는 EGR2 유전자에 의해 인체 내에서 부호화되는 단백질이다.EGR2(Krox20이라고도 함)는 3개의 아연 핑거 DNA 결합 부위를 포함하는 전사 조절 인자로, 신경 ^[5]^[6]^[7]파고세포를 이동하는 집단에서 매우 발현됩니다.그것은 나중에 두개골 신경절의 신경능 유도 세포에서 발현된다.Krox20에 의해 코드된 단백질에는 2개의 cys2his2형 아연 핑거가 포함되어 있습니다.Krox20 유전자 발현은 초기 후두뇌 ^[6]^[8]발달로 제한된다.그것은 진화적으로 척추동물, 인간, 쥐, 병아리, 그리고 얼룩말 ^[9]물고기에서 보존된다.또한 아미노산 배열 및 배아 유전자 패턴의 대부분은 척추동물 사이에 보존되어 후뇌 ^[7]^[10]^[11]^[12]발달에 있어 그 역할을 더욱 함축하고 있다.생쥐에서 Krox20이 제거되면 Krox20 유전자의 단백질 코딩 능력(아연 손가락의 DNA 결합 도메인 포함)이 저하된다.이 쥐들은 태어난 후 생존할 수 없고 큰 후두뇌 ^[6]^[8]결함을 보인다.이러한 결함은 두개골 감각 신경절 형성 결함, 안면 신경(VII) 및 청각 신경(VII)과 삼차 신경(V)의 부분 융합, 이러한 신경절에서 나오는 근위 신경근들이 뇌간으로 들어갈 때 서로 엉키고 서로 얽히고 설킨 것을 포함하지만 이에 국한되지 않는다.광인두 신경 복합체.^[13]^[14]^[15]

기능.

초기 성장 반응 단백질 2는 3개의 탠덤 C2H2형 아연 핑거를 가진 전사 인자이다.이 유전자의 돌연변이는 상염색체 우성 Charcot-Marie-Tooth병, 1D형,[16] Dejerine-Sottas병,^[17]^[18] 그리고 선천성 근경화성 신경장애와 관련되어 있다.두 연구는 EGR2 발현을 매우 공격적인 뼈 관련 ^[20]암인 유잉 육종에서 유래한 골발진제와 세포주의 증식과 연관짓고 있다.

새로운 연구는 Krox20 혹은 Krox20이 남성 ^[21]대머리의 원인이라는 것을 암시한다.

레퍼런스

^ ^a ^b ^c GRCh38: 앙상블 릴리즈 89: ENSG00000122877 - 앙상블, 2017년 5월
^ ^a ^b ^c GRCm38: 앙상블 릴리즈 89: ENSMUSG000037868 - 앙상블, 2017년 5월
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Chavrier P, Janssen-Timmen U, Mattéi MG, Zerial M, Bravo R, Charnay P (February 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.
^ ^a ^b ^c Swiatek PJ, Gridley T (November 1993). "Perinatal lethality and defects in hindbrain development in mice homozygous for a targeted mutation of the zinc finger gene Krox20". Genes & Development. 7 (11): 2071–84. doi:10.1101/gad.7.11.2071. PMID 8224839.
^ ^a ^b Wilkinson DG, Bhatt S, Chavrier P, Bravo R, Charnay P (February 1989). "Segment-specific expression of a zinc-finger gene in the developing nervous system of the mouse". Nature. 337 (6206): 461–4. Bibcode:1989Natur.337..461W. doi:10.1038/337461a0. PMID 2915691. S2CID 4336310.
^ ^a ^b Bradley LC, Snape A, Bhatt S, Wilkinson DG (January 1993). "The structure and expression of the Xenopus Krox-20 gene: conserved and divergent patterns of expression in rhombomeres and neural crest". Mechanisms of Development. 40 (1–2): 73–84. doi:10.1016/0925-4773(93)90089-g. PMID 8443108. S2CID 20347966.
^ Bhat RV, Worley PF, Cole AJ, Baraban JM (April 1992). "Activation of the zinc finger encoding gene krox-20 in adult rat brain: comparison with zif268". Brain Research. Molecular Brain Research. 13 (3): 263–6. doi:10.1016/0169-328x(92)90034-9. PMID 1317498.
^ Wilkinson DG, Bhatt S, Cook M, Boncinelli E, Krumlauf R (October 1989). "Segmental expression of Hox-2 homoeobox-containing genes in the developing mouse hindbrain". Nature. 341 (6241): 405–9. Bibcode:1989Natur.341..405W. doi:10.1038/341405a0. PMID 2571936. S2CID 4324322.
^ Hunt P, Gulisano M, Cook M, Sham MH, Faiella A, Wilkinson D, Boncinelli E, Krumlauf R (October 1991). "A distinct Hox code for the branchial region of the vertebrate head". Nature. 353 (6347): 861–4. Bibcode:1991Natur.353..861H. doi:10.1038/353861a0. PMID 1682814. S2CID 4312466.
^ Oxtoby E, Jowett T (March 1993). "Cloning of the zebrafish krox-20 gene (krx-20) and its expression during hindbrain development". Nucleic Acids Research. 21 (5): 1087–95. doi:10.1093/nar/21.5.1087. PMC 309267. PMID 8464695.
^ Frohman MA, Boyle M, Martin GR (October 1990). "Isolation of the mouse Hox-2.9 gene; analysis of embryonic expression suggests that positional information along the anterior-posterior axis is specified by mesoderm". Development. 110 (2): 589–607. doi:10.1242/dev.110.2.589. PMID 1983472.
^ Murphy P, Davidson DR, Hill RE (September 1989). "Segment-specific expression of a homoeobox-containing gene in the mouse hindbrain". Nature. 341 (6238): 156–9. Bibcode:1989Natur.341..156M. doi:10.1038/341156a0. PMID 2571087. S2CID 4371764.
^ Nieto MA, Bradley LC, Wilkinson DG (1991). "Conserved segmental expression of Krox-20 in the vertebrate hindbrain and its relationship to lineage restriction". Development. Suppl 2: 59–62. doi:10.1242/dev.113.Supplement_2.59. hdl:10261/32226. PMID 1688180.
^ "Entrez Gene: EGR2 early growth response 2 (Krox-20 homolog, Drosophila)".
^ Boerkoel CF, Takashima H, Bacino CA, Daentl D, Lupski JR (July 2001). "EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy". Neurogenetics. 3 (3): 153–7. doi:10.1007/s100480100107. PMID 11523566. S2CID 32746701.
^ Warner LE, Mancias P, Butler IJ, McDonald CM, Keppen L, Koob KG, Lupski JR (April 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. S2CID 25550479.
^ Chandra A, Lan S, Zhu J, Siclari VA, Qin L (July 2013). "Epidermal growth factor receptor (EGFR) signaling promotes proliferation and survival in osteoprogenitors by increasing early growth response 2 (EGR2) expression". The Journal of Biological Chemistry. 288 (28): 20488–98. doi:10.1074/jbc.M112.447250. PMC 3711314. PMID 23720781.
^ Grünewald TG, Bernard V, Gilardi-Hebenstreit P, Raynal V, Surdez D, Aynaud MM, et al. (September 2015). "Chimeric EWSR1-FLI1 regulates the Ewing sarcoma susceptibility gene EGR2 via a GGAA microsatellite". Nature Genetics. 47 (9): 1073–8. doi:10.1038/ng.3363. PMC 4591073. PMID 26214589.
^ Le, Lu. "Scientists find skin cells at the root of balding, gray hair". UT Southwestern Medical Center. Retrieved 9 May 2017.

추가 정보

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 (February 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 (October 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. Bibcode:1988PNAS...85.7164J. 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 (October 1994). "Krox-20 controls myelination in the peripheral nervous system". Nature. 371 (6500): 796–9. Bibcode:1994Natur.371..796T. doi:10.1038/371796a0. PMID 7935840. S2CID 4333028.
Sham MH, Vesque C, Nonchev S, Marshall H, Frain M, Gupta RD, Whiting J, Wilkinson D, Charnay P, Krumlauf R (January 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. S2CID 3205209.
Levi G, Topilko P, Schneider-Maunoury S, Lasagna M, Mantero S, Pesce B, Ghersi G, Cancedda R, Charnay P (June 1996). "Role of Krox-20 in endochondral bone formation". Annals of the New York Academy of Sciences. 785 (1): 288–91. Bibcode:1996NYASA.785..288L. doi:10.1111/j.1749-6632.1996.tb56286.x. PMID 8702157. S2CID 27761983.
Warner LE, Mancias P, Butler IJ, McDonald CM, Keppen L, Koob KG, Lupski JR (April 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. S2CID 25550479.
Warner LE, Svaren J, Milbrandt J, Lupski JR (July 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 (June 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. S2CID 11569651.
Bellone E, Di Maria E, Soriani S, Varese A, Doria LL, Ajmar F, Mandich P (October 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 (April 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. hdl:2434/531868. PMID 10762521. S2CID 28404231.
Gambardella L, Schneider-Maunoury S, Voiculescu O, Charnay P, Barrandon Y (September 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. S2CID 18000564.
Yoshihara T, Kanda F, Yamamoto M, Ishihara H, Misu K, Hattori N, Chihara K, Sobue G (March 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. S2CID 19693658.
Boerkoel CF, Takashima H, Bacino CA, Daentl D, Lupski JR (July 2001). "EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy". Neurogenetics. 3 (3): 153–7. doi:10.1007/s100480100107. PMID 11523566. S2CID 32746701.
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 (December 2002). "Frequency of mutations in the early growth response 2 gene associated with peripheral demyelinating neuropathies". Journal of Medical Genetics. 39 (12): 81e–81. doi:10.1136/jmg.39.12.e81. PMC 1757229. PMID 12471219.
Musso M, Balestra P, Taroni F, Bellone E, Mandich P (February 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. S2CID 29600641.
Unoki M, Nakamura Y (April 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 (June 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. S2CID 36723641.

외부 링크

Charcot-Marie-Tooth Neuropathy Type 1의 GeneReviews/NCBI/NIH/UW 엔트리
Charcot-Marie-Tooth Neuropathy Type 4의 GeneReviews/NCBI/NIH/UW 엔트리
미국 국립 의학 도서관(MeSH)의 EGR2+단백질+인간

이 기사에는 미국 국립 의학 도서관(미국 국립 의학 도서관)의 공공 도메인 텍스트가 포함되어 있습니다.

[refGRCh38Ensembl-1] GRCh38: 앙상블 릴리즈 89: ENSG00000122877 - 앙상블, 2017년 5월

[refGRCm38Ensembl-2] GRCm38: 앙상블 릴리즈 89: ENSMUSG000037868 - 앙상블, 2017년 5월

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[Chavrier_1989-5] Chavrier P, Janssen-Timmen U, Mattéi MG, Zerial M, Bravo R, Charnay P (February 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.

[Swiatek_1993-6] Swiatek PJ, Gridley T (November 1993). "Perinatal lethality and defects in hindbrain development in mice homozygous for a targeted mutation of the zinc finger gene Krox20". Genes & Development. 7 (11): 2071–84. doi:10.1101/gad.7.11.2071. PMID 8224839.

[Wilkinson_1989a-7] Wilkinson DG, Bhatt S, Chavrier P, Bravo R, Charnay P (February 1989). "Segment-specific expression of a zinc-finger gene in the developing nervous system of the mouse". Nature. 337 (6206): 461–4. Bibcode:1989Natur.337..461W. doi:10.1038/337461a0. PMID 2915691. S2CID 4336310.

[Bradley_1993-8] Bradley LC, Snape A, Bhatt S, Wilkinson DG (January 1993). "The structure and expression of the Xenopus Krox-20 gene: conserved and divergent patterns of expression in rhombomeres and neural crest". Mechanisms of Development. 40 (1–2): 73–84. doi:10.1016/0925-4773(93)90089-g. PMID 8443108. S2CID 20347966.

[Bhat_1992-9] Bhat RV, Worley PF, Cole AJ, Baraban JM (April 1992). "Activation of the zinc finger encoding gene krox-20 in adult rat brain: comparison with zif268". Brain Research. Molecular Brain Research. 13 (3): 263–6. doi:10.1016/0169-328x(92)90034-9. PMID 1317498.

[Wilkinson_1989b-10] Wilkinson DG, Bhatt S, Cook M, Boncinelli E, Krumlauf R (October 1989). "Segmental expression of Hox-2 homoeobox-containing genes in the developing mouse hindbrain". Nature. 341 (6241): 405–9. Bibcode:1989Natur.341..405W. doi:10.1038/341405a0. PMID 2571936. S2CID 4324322.

[Hunt_1991-11] Hunt P, Gulisano M, Cook M, Sham MH, Faiella A, Wilkinson D, Boncinelli E, Krumlauf R (October 1991). "A distinct Hox code for the branchial region of the vertebrate head". Nature. 353 (6347): 861–4. Bibcode:1991Natur.353..861H. doi:10.1038/353861a0. PMID 1682814. S2CID 4312466.

[Oxtoby_1993-12] Oxtoby E, Jowett T (March 1993). "Cloning of the zebrafish krox-20 gene (krx-20) and its expression during hindbrain development". Nucleic Acids Research. 21 (5): 1087–95. doi:10.1093/nar/21.5.1087. PMC 309267. PMID 8464695.

[Frohman_1990-13] Frohman MA, Boyle M, Martin GR (October 1990). "Isolation of the mouse Hox-2.9 gene; analysis of embryonic expression suggests that positional information along the anterior-posterior axis is specified by mesoderm". Development. 110 (2): 589–607. doi:10.1242/dev.110.2.589. PMID 1983472.

[Murphy_1989-14] Murphy P, Davidson DR, Hill RE (September 1989). "Segment-specific expression of a homoeobox-containing gene in the mouse hindbrain". Nature. 341 (6238): 156–9. Bibcode:1989Natur.341..156M. doi:10.1038/341156a0. PMID 2571087. S2CID 4371764.

[Nieto_1991-15] Nieto MA, Bradley LC, Wilkinson DG (1991). "Conserved segmental expression of Krox-20 in the vertebrate hindbrain and its relationship to lineage restriction". Development. Suppl 2: 59–62. doi:10.1242/dev.113.Supplement_2.59. hdl:10261/32226. PMID 1688180.

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[20] Grünewald TG, Bernard V, Gilardi-Hebenstreit P, Raynal V, Surdez D, Aynaud MM, et al. (September 2015). "Chimeric EWSR1-FLI1 regulates the Ewing sarcoma susceptibility gene EGR2 via a GGAA microsatellite". Nature Genetics. 47 (9): 1073–8. doi:10.1038/ng.3363. PMC 4591073. PMID 26214589.

[21] Le, Lu. "Scientists find skin cells at the root of balding, gray hair". UT Southwestern Medical Center. Retrieved 9 May 2017.

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