MED12

位於人類X染色體的基因

MED12Mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae))是在X染色体发现的人类基因[6]

MED12
识别号
别名MED12;, ARC240, CAGH45, FGS1, HOPA, MED12S, OHDOX, OKS, OPA1, TNRC11, TRAP230, mediator complex subunit 12, Kto, HDKR
外部IDOMIM300188 MGI1926212 HomoloGene68441 GeneCardsMED12
相关疾病
FG syndrome、​blepharophimosis-intellectual disability syndrome, MKB type[1]
基因位置(人类
X染色体
染色体X染色体[2]
X染色体
MED12的基因位置
MED12的基因位置
基因座Xq13.1起始71,118,543 bp[2]
终止71,144,103 bp[2]
RNA表达模式




查阅更多表达数据
直系同源
物种人类小鼠
Entrez
Ensembl
UniProt
mRNA​序列

NM_005120

NM_021521

蛋白序列

NP_005111

NP_067496

基因位置​(UCSC)Chr X: 71.12 – 71.14 MbChr X: 100.32 – 100.34 Mb
PubMed​查找[4][5]
维基数据
查看/编辑人类查看/编辑小鼠

临床意义

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MED12基因上的突变与Lujan-Fryns综合症FG综合症X连锁显性遗传智能障碍,以及前列腺癌有关[7]

Mutations in MED12 are associated with uterine leiomyomas[8] and breast fibroepithelial tumors (e.g. fibroadenoma and phyllodes tumors).[9]

相互作用

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MED12可与下列蛋白发生相互作用

参考

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  1. ^ 與MED12相關的疾病;在維基數據上查看/編輯參考. 
  2. ^ 2.0 2.1 2.2 GRCh38: Ensembl release 89: ENSG00000184634 - Ensembl, May 2017
  3. ^ 3.0 3.1 3.2 GRCm38: Ensembl release 89: ENSMUSG00000079487 - Ensembl, May 2017
  4. ^ Human PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine. 
  5. ^ Mouse PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine. 
  6. ^ Entrez Gene: MED12 mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae). (原始内容存档于2010-03-07). 
  7. ^ 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. Exome sequencing identifies recurrent SPOP, FOXA1 and MED12 mutations in prostate cancer (PDF). Nature Genetics. Jun 2012, 44 (6): 685–9. PMC 3673022 . PMID 22610119. doi:10.1038/ng.2279. 
  8. ^ Kämpjärvi K, Park MJ, Mehine M, Kim NH, Clark AD, Bützow R, Böhling T, Böhm J, Mecklin JP, Järvinen H, Tomlinson IP, van der Spuy ZM, Sjöberg J, Boyer TG, Vahteristo P. Mutations in Exon 1 highlight the role of MED12 in uterine leiomyomas. Human Mutation. Sep 2014, 35 (9): 1136–41. PMID 24980722. S2CID 13931280. doi:10.1002/humu.22612. 
  9. ^ Piscuoglio S, Murray M, Fusco N, Marchiò C, Loo FL, Martelotto LG, Schultheis AM, Akram M, Weigelt B, Brogi E, Reis-Filho JS. MED12 somatic mutations in fibroadenomas and phyllodes tumours of the breast. Histopathology. Nov 2015, 67 (5): 719–29. PMC 4996373 . PMID 25855048. doi:10.1111/his.12712. 
  10. ^ 10.0 10.1 10.2 Ito M, Yuan CX, Malik S, Gu W, Fondell JD, Yamamura S, Fu ZY, Zhang X, Qin J, Roeder RG. Identity between TRAP and SMCC complexes indicates novel pathways for the function of nuclear receptors and diverse mammalian activators. Molecular Cell. Mar 1999, 3 (3): 361–70. PMID 10198638. doi:10.1016/S1097-2765(00)80463-3 . 
  11. ^ 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. The chromatin-remodeling complex WINAC targets a nuclear receptor to promoters and is impaired in Williams syndrome. Cell. Jun 2003, 113 (7): 905–17. PMID 12837248. doi:10.1016/S0092-8674(03)00436-7 . 
  12. ^ 12.0 12.1 Kang YK, Guermah M, Yuan CX, Roeder RG. 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. Mar 2002, 99 (5): 2642–7. Bibcode:2002PNAS...99.2642K. PMC 122401 . PMID 11867769. doi:10.1073/pnas.261715899 . 
  13. ^ Wallberg AE, Yamamura S, Malik S, Spiegelman BM, Roeder RG. Coordination of p300-mediated chromatin remodeling and TRAP/mediator function through coactivator PGC-1alpha. Molecular Cell. Nov 2003, 12 (5): 1137–49. PMID 14636573. doi:10.1016/S1097-2765(03)00391-5 . 
  14. ^ 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. A set of consensus mammalian mediator subunits identified by multidimensional protein identification technology. Molecular Cell. Jun 2004, 14 (5): 685–91. PMID 15175163. doi:10.1016/j.molcel.2004.05.006 . 
  15. ^ Zhou R, Bonneaud N, Yuan CX, de Santa Barbara P, Boizet B, Schomber T, Scherer G, Roeder RG, Poulat F, Berta P, Tibor S. SOX9 interacts with a component of the human thyroid hormone receptor-associated protein complex. Nucleic Acids Research. Jul 2002, 30 (14): 3245–52. PMC 135763 . PMID 12136106. doi:10.1093/nar/gkf443. 

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