호모사피엔스 종의 단백질 코딩 유전자
MED12 식별자 별칭 MED12 외부 ID OMIM : 300188 MGI : 1926212 호몰로진 : 68441 GeneCard: MED12 직교체 종 인간 마우스 엔트레스 앙상블 유니프로트 RefSeq(mRNA) RefSeq(단백질) 위치(UCSC) Cr X: 71.12 – 71.14Mb Cr X: 100.32 – 100.34Mb PubMed 검색[3] [4] 위키다타
RNA 중합효소 II 전사의 중재자, MED12 로도 알려진 소단위 12호몰로컬(S. cerebisiae )은 X염색체 에서 발견되는 인간 유전자 다.[5]
임상적 유의성 MED12 의 돌연변이는 전립선암 발병 사례뿐만 아니라 X연계 우성 정신지체 , 루잔 프리언스 증후군 과 FG 증후군 의 최소 두 가지 형태에 책임이 있다.[6]
MED12 의 돌연변이는 자궁경부종 과[7] 섬유종종 과 필로드종양 )과 관련이 있다.[8]
상호작용 MED12는 다음과 상호 작용하는 것으로 나타났다.
참조 ^ a b c GRCh38: 앙상블 릴리스 89: ENSG00000184634 - 앙상블 , 2017년 5월^ a b c GRCm38: 앙상블 릴리스 89: ENSMUSG000079487 - 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 .^ "Entrez Gene: MED12 mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)" .^ Barbieri CE, Baca SC, Lawrence MS, Demichelis F, Blattner M, Theurillat JP, White TA, Stojanov P, Van Allen E, Stransky N, Nickerson E, Chae SS, Boysen G, Auclair D, Onofrio RC, Park K, Kitabayashi N, MacDonald TY, Sheikh K, Vuong T, Guiducci C, Cibulskis K, Sivachenko A, Carter SL, Saksena G, Voet D, Hussain WM, Ramos AH, Winckler W, Redman MC, Ardlie K, Tewari AK, Mosquera JM, Rupp N, Wild PJ, Moch H, Morrissey C, Nelson PS, Kantoff PW, Gabriel SB, Golub TR, Meyerson M, Lander ES, Getz G, Rubin MA, Garraway LA (Jun 2012). 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"Identity between TRAP and SMCC complexes indicates novel pathways for the function of nuclear receptors and diverse mammalian activators" . Molecular Cell . 3 (3): 361–70. doi :10.1016/S1097-2765(00)80463-3 PMID 10198638 . ^ Kitagawa H, Fujiki R, Yoshimura K, Mezaki Y, Uematsu Y, Matsui D, Ogawa S, Unno K, Okubo M, Tokita A, Nakagawa T, Ito T, Ishimi Y, Nagasawa H, Matsumoto T, Yanagisawa J, Kato S (Jun 2003). "The chromatin-remodeling complex WINAC targets a nuclear receptor to promoters and is impaired in Williams syndrome" . Cell . 113 (7): 905–17. doi :10.1016/S0092-8674(03)00436-7 PMID 12837248 . ^ a b Kang YK, Guermah M, Yuan CX, Roeder RG (Mar 2002). "The TRAP/Mediator coactivator complex interacts directly with estrogen receptors alpha and beta through the TRAP220 subunit and directly enhances estrogen receptor function in vitro" . Proceedings of the National Academy of Sciences of the United States of America . 99 (5): 2642–7. Bibcode :2002PNAS...99.2642K . doi :10.1073/pnas.261715899 PMC 122401 PMID 11867769 . ^ Wallberg AE, Yamamura S, Malik S, Spiegelman BM, Roeder RG (Nov 2003). "Coordination of p300-mediated chromatin remodeling and TRAP/mediator function through coactivator PGC-1alpha" . Molecular Cell . 12 (5): 1137–49. doi :10.1016/S1097-2765(03)00391-5 PMID 14636573 . ^ Sato S, Tomomori-Sato C, Parmely TJ, Florens L, Zybailov B, Swanson SK, Banks CA, Jin J, Cai Y, Washburn MP, Conaway JW, Conaway RC (Jun 2004). "A set of consensus mammalian mediator subunits identified by multidimensional protein identification technology" . Molecular Cell . 14 (5): 685–91. doi :10.1016/j.molcel.2004.05.006 PMID 15175163 . ^ Zhou R, Bonneaud N, Yuan CX, de Santa Barbara P, Boizet B, Schomber T, Scherer G, Roeder RG, Poulat F, Berta P, Tibor S (Jul 2002). "SOX9 interacts with a component of the human thyroid hormone receptor-associated protein complex" . 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"The Chediak-Higashi protein interacts with SNARE complex and signal transduction proteins" . Molecular Medicine . 8 (1): 56–64. doi :10.1007/BF03402003 . PMC 2039936 PMID 11984006 . Ge K, Guermah M, Yuan CX, Ito M, Wallberg AE, Spiegelman BM, Roeder RG (May 2002). "Transcription coactivator TRAP220 is required for PPAR gamma 2-stimulated adipogenesis". Nature . 417 (6888): 563–7. Bibcode :2002Natur.417..563G . doi :10.1038/417563a . PMID 12037571 . S2CID 4432077 . Zhou R, Bonneaud N, Yuan CX, de Santa Barbara P, Boizet B, Schomber T, Scherer G, Roeder RG, Poulat F, Berta P, Tibor S (Jul 2002). "SOX9 interacts with a component of the human thyroid hormone receptor-associated protein complex" . Nucleic Acids Research . 30 (14): 3245–52. doi :10.1093/nar/gkf443 . PMC 135763 PMID 12136106 . Wang Q, Sharma D, Ren Y, Fondell JD (Nov 2002). "A coregulatory role for the TRAP-mediator complex in androgen receptor-mediated gene expression" . The Journal of Biological Chemistry . 277 (45): 42852–8. doi :10.1074/jbc.M206061200 PMID 12218053 . Sato S, Tomomori-Sato C, Banks CA, Sorokina I, Parmely TJ, Kong SE, Jin J, Cai Y, Lane WS, Brower CS, Conaway RC, Conaway JW (Apr 2003). "Identification of mammalian Mediator subunits with similarities to yeast Mediator subunits Srb5, Srb6, Med11, and Rox3" . The Journal of Biological Chemistry . 278 (17): 15123–7. doi :10.1074/jbc.C300054200 PMID 12584197 . Gwack Y, Baek HJ, Nakamura H, Lee SH, Meisterernst M, Roeder RG, Jung JU (Mar 2003). "Principal role of TRAP/mediator and SWI/SNF complexes in Kaposi's sarcoma-associated herpesvirus RTA-mediated lytic reactivation" . Molecular and Cellular Biology . 23 (6): 2055–67. doi :10.1128/MCB.23.6.2055-2067.2003 . PMC 149486 PMID 12612078 . Kitano T, Schwarz C, Nickel B, Pääbo S (Aug 2003). "Gene diversity patterns at 10 X-chromosomal loci in humans and chimpanzees" . 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