MED12

Mutations in MED12 are responsible for at least two different forms of X-linked dominant mental retardation, Lujan-Fryns syndrome and FG syndrome, as well as instances of prostate cancer.{{cite journal | vauthors = 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 | title = Exome sequencing identifies recurrent SPOP, FOXA1 and MED12 mutations in prostate cancer | journal = Nature Genetics | volume = 44 | issue = 6 | pages = 685–9 | date = Jun 2012 | pmid = 22610119 | pmc = 3673022 | doi = 10.1038/ng.2279 | url = http://dspace.mit.edu/bitstream/1721.1/84658/1/Lander_Exome%20sequencing.pdf }}

Mutations in MED12 are associated with uterine leiomyomas{{cite journal | vauthors = 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 | title = Mutations in Exon 1 highlight the role of MED12 in uterine leiomyomas | journal = Human Mutation | volume = 35 | issue = 9 | pages = 1136–41 | date = Sep 2014 | pmid = 24980722 | doi = 10.1002/humu.22612 | s2cid = 13931280 | doi-access = free }} and breast fibroepithelial tumors (e.g. fibroadenoma and phyllodes tumors).{{cite journal | vauthors = Piscuoglio S, Murray M, Fusco N, Marchiò C, Loo FL, Martelotto LG, Schultheis AM, Akram M, Weigelt B, Brogi E, Reis-Filho JS | title = MED12 somatic mutations in fibroadenomas and phyllodes tumours of the breast | journal = Histopathology | volume = 67 | issue = 5 | pages = 719–29 | date = Nov 2015 | pmid = 25855048 | pmc = 4996373 | doi = 10.1111/his.12712 }}

MED12 has been shown to interact with:

• Calcitriol receptor,
• Cyclin-dependent kinase 8
• Estrogen receptor alpha,{{cite journal | vauthors = Kang YK, Guermah M, Yuan CX, Roeder RG | title = 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 | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 99 | issue = 5 | pages = 2642–7 | date = Mar 2002 | pmid = 11867769 | pmc = 122401 | doi = 10.1073/pnas.261715899 | bibcode = 2002PNAS...99.2642K | doi-access = free }}
• Gli3, G9a, PPARGC1A,{{cite journal | vauthors = Wallberg AE, Yamamura S, Malik S, Spiegelman BM, Roeder RG | title = Coordination of p300-mediated chromatin remodeling and TRAP/mediator function through coactivator PGC-1alpha | journal = Molecular Cell | volume = 12 | issue = 5 | pages = 1137–49 | date = Nov 2003 | pmid = 14636573 | doi = 10.1016/S1097-2765(03)00391-5 | doi-access = free }}
• MED26,{{cite journal | vauthors = 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 | title = A set of consensus mammalian mediator subunits identified by multidimensional protein identification technology | journal = Molecular Cell | volume = 14 | issue = 5 | pages = 685–91 | date = Jun 2004 | pmid = 15175163 | doi = 10.1016/j.molcel.2004.05.006 | doi-access = free }}
• SOX9,{{cite journal | vauthors = Zhou R, Bonneaud N, Yuan CX, de Santa Barbara P, Boizet B, Schomber T, Scherer G, Roeder RG, Poulat F, Berta P, Tibor S | title = SOX9 interacts with a component of the human thyroid hormone receptor-associated protein complex | journal = Nucleic Acids Research | volume = 30 | issue = 14 | pages = 3245–52 | date = Jul 2002 | pmid = 12136106 | pmc = 135763 | doi = 10.1093/nar/gkf443 }} and
• Thyroid hormone receptor alpha.{{cite journal | vauthors = Ito M, Yuan CX, Malik S, Gu W, Fondell JD, Yamamura S, Fu ZY, Zhang X, Qin J, Roeder RG | title = Identity between TRAP and SMCC complexes indicates novel pathways for the function of nuclear receptors and diverse mammalian activators | journal = Molecular Cell | volume = 3 | issue = 3 | pages = 361–70 | date = Mar 1999 | pmid = 10198638 | doi = 10.1016/S1097-2765(00)80463-3 | doi-access = free }}

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• {{cite journal | vauthors = Näär AM, Beaurang PA, Zhou S, Abraham S, Solomon W, Tjian R | title = Composite co-activator ARC mediates chromatin-directed transcriptional activation | journal = Nature | volume = 398 | issue = 6730 | pages = 828–32 | date = Apr 1999 | pmid = 10235267 | doi = 10.1038/19789 | bibcode = 1999Natur.398..828N | s2cid = 23646963 }}
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• {{cite journal | vauthors = Ge K, Guermah M, Yuan CX, Ito M, Wallberg AE, Spiegelman BM, Roeder RG | title = Transcription coactivator TRAP220 is required for PPAR gamma 2-stimulated adipogenesis | journal = Nature | volume = 417 | issue = 6888 | pages = 563–7 | date = May 2002 | pmid = 12037571 | doi = 10.1038/417563a | bibcode = 2002Natur.417..563G | s2cid = 4432077 }}
• {{cite journal | vauthors = Zhou R, Bonneaud N, Yuan CX, de Santa Barbara P, Boizet B, Schomber T, Scherer G, Roeder RG, Poulat F, Berta P, Tibor S | title = SOX9 interacts with a component of the human thyroid hormone receptor-associated protein complex | journal = Nucleic Acids Research | volume = 30 | issue = 14 | pages = 3245–52 | date = Jul 2002 | pmid = 12136106 | pmc = 135763 | doi = 10.1093/nar/gkf443 }}
• {{cite journal | vauthors = Wang Q, Sharma D, Ren Y, Fondell JD | title = A coregulatory role for the TRAP-mediator complex in androgen receptor-mediated gene expression | journal = The Journal of Biological Chemistry | volume = 277 | issue = 45 | pages = 42852–8 | date = Nov 2002 | pmid = 12218053 | doi = 10.1074/jbc.M206061200 | doi-access = free }}
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• {{cite journal | vauthors = Gwack Y, Baek HJ, Nakamura H, Lee SH, Meisterernst M, Roeder RG, Jung JU | title = Principal role of TRAP/mediator and SWI/SNF complexes in Kaposi's sarcoma-associated herpesvirus RTA-mediated lytic reactivation | journal = Molecular and Cellular Biology | volume = 23 | issue = 6 | pages = 2055–67 | date = Mar 2003 | pmid = 12612078 | pmc = 149486 | doi = 10.1128/MCB.23.6.2055-2067.2003 }}
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• {{cite journal | vauthors = Zhou H, Kim S, Ishii S, Boyer TG | title = Mediator modulates Gli3-dependent Sonic hedgehog signaling | journal = Molecular and Cellular Biology | volume = 26 | issue = 23 | pages = 8667–82 | date = Dec 2006 | pmid = 17000779 | pmc = 1636813 | doi = 10.1128/MCB.00443-06 }}
• {{cite journal | vauthors = Zhou H, Spaeth JM, Kim NH, Xu X, Friez MJ, Schwartz CE, Boyer TG | title = MED12 mutations link intellectual disability syndromes with dysregulated GLI3-dependent Sonic Hedgehog signaling | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 109 | issue = 48 | pages = 19763–8 | date = Nov 2012 | pmid = 23091001 | pmc = 3511715 | doi = 10.1073/pnas.1121120109 | doi-access = free }}

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• [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=fg GeneReviews/NCBI/NIH/UW entry on MED12-Related Disorders]