MED12

MED12
識別號
别名	MED12；, ARC240, CAGH45, FGS1, HOPA, MED12S, OHDOX, OKS, OPA1, TNRC11, TRAP230, mediator complex subunit 12, Kto, HDKR
外部ID	OMIM：300188 MGI：1926212 HomoloGene：68441 GeneCards：MED12
相關疾病
	FG syndrome、blepharophimosis-intellectual disability syndrome, MKB type[1]
基因位置（人类）
染色体	X染色體[2]
终止	71,144,103 bp[2]
基因位置（小鼠）
染色体	小鼠X染色体[3]
终止	100,341,071 bp[3]
RNA表达模式
	; ; ; ;
	查阅更多表达数据
基因本體
分子功能	• RNA polymerase II cis-regulatory region sequence-specific DNA binding; • 转录共激活因子活性; • beta-catenin binding; • protein domain specific binding; • ubiquitin protein ligase activity; • transcription coregulator activity; • 转录因子结合; • chromatin binding; • thyroid hormone receptor binding; • protein C-terminus binding; • 血浆蛋白结合; • nuclear receptor coactivator activity; • vitamin D receptor binding; • signaling receptor activity;
細胞組分	• 膜; • ubiquitin ligase complex; • 仲介體; • 细胞核; • 核质;
生物學過程	• somitogenesis; • androgen receptor signaling pathway; • endoderm development; • regulation of transcription, DNA-templated; • embryonic organ development; • embryonic neurocranium morphogenesis; • axis elongation involved in somitogenesis; • regulation of transcription by RNA polymerase II; • Schwann cell development; • negative regulation of Wnt signaling pathway; • intracellular steroid hormone receptor signaling pathway; • transcription, DNA-templated; • stem cell population maintenance; • positive regulation of transcription, DNA-templated; • Wnt signaling pathway, planar cell polarity pathway; • 心脏发育; • neural tube closure; • embryonic brain development; • protein ubiquitination; • neural tube development; • spinal cord development; • post-anal tail morphogenesis; • canonical Wnt signaling pathway; • oligodendrocyte development; • transcription initiation from RNA polymerase II promoter; • positive regulation of transcription by RNA polymerase II;
	Sources:Amigo / QuickGO
直系同源
	9968
	59024
	ENSG00000184634
	ENSMUSG00000079487
	Q93074
	A2AGH6
	NM_005120
	NM_021521
	NP_005111
	NP_067496
	維基數據

MED12（Mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)）是在X染色體發現的人類基因。[6]

臨床意義

已隱藏部分未翻譯内容，歡迎參與翻譯。

MED12基因上的突变与Lujan-Fryns綜合症、FG综合征等X連鎖顯性遺傳智能障礙，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

MED12可與下列蛋白發生相互作用：

维生素D受体[10][11]
周期蛋白依赖性激酶8[10][12]
雌激素受体α[12]
Gli3、G9a、PPARGC1A[13]
MED26[14]
SOX9[15]
甲状腺激素受体α[10]

參考

.
GRCh38: Ensembl release 89: ENSG00000184634 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000079487 - Ensembl, May 2017
. National Center for Biotechnology Information, U.S. National Library of Medicine.
. National Center for Biotechnology Information, U.S. National Library of Medicine.
. （原始内容存档于2010-03-07）.
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Piscuoglio S, Murray M, Fusco N, Marchiò C, Loo FL, Martelotto LG, Schultheis AM, Akram M, Weigelt B, Brogi E, Reis-Filho JS. . Histopathology. Nov 2015, 67 (5): 719–29. PMC 4996373 . PMID 25855048. doi:10.1111/his.12712.
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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. . Cell. Jun 2003, 113 (7): 905–17. PMID 12837248. doi:10.1016/S0092-8674(03)00436-7 .
Kang YK, Guermah M, Yuan CX, Roeder RG. . 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 .
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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. . Molecular Cell. Jun 2004, 14 (5): 685–91. PMID 15175163. doi:10.1016/j.molcel.2004.05.006 .
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延伸閱讀

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外部鏈接

GeneReviews/NCBI/NIH/UW entry on MED12-Related Disorders （页面存档备份，存于）

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[1] .

[refGRCh38Ensembl-2] GRCh38: Ensembl release 89: ENSG00000184634 - Ensembl, May 2017

[refGRCm38Ensembl-3] GRCm38: Ensembl release 89: ENSMUSG00000079487 - Ensembl, May 2017

[4] . National Center for Biotechnology Information, U.S. National Library of Medicine.

[5] . National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-6] . （原始内容存档于2010-03-07）.

[pmid22610119-7] 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. (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. . 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. . Histopathology. Nov 2015, 67 (5): 719–29. PMC 4996373 . PMID 25855048. doi:10.1111/his.12712.

[pmid10198638-10] Ito M, Yuan CX, Malik S, Gu W, Fondell JD, Yamamura S, Fu ZY, Zhang X, Qin J, Roeder RG. . Molecular Cell. Mar 1999, 3 (3): 361–70. PMID 10198638. doi:10.1016/S1097-2765(00)80463-3 .

[pmid12837248-11] 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. . Cell. Jun 2003, 113 (7): 905–17. PMID 12837248. doi:10.1016/S0092-8674(03)00436-7 .

[pmid11867769-12] Kang YK, Guermah M, Yuan CX, Roeder RG. . 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 .

[pmid14636573-13] Wallberg AE, Yamamura S, Malik S, Spiegelman BM, Roeder RG. . Molecular Cell. Nov 2003, 12 (5): 1137–49. PMID 14636573. doi:10.1016/S1097-2765(03)00391-5 .

[pmid15175163-14] 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. . Molecular Cell. Jun 2004, 14 (5): 685–91. PMID 15175163. doi:10.1016/j.molcel.2004.05.006 .

[pmid12136106-15] Zhou R, Bonneaud N, Yuan CX, de Santa Barbara P, Boizet B, Schomber T, Scherer G, Roeder RG, Poulat F, Berta P, Tibor S. . Nucleic Acids Research. Jul 2002, 30 (14): 3245–52. PMC 135763 . PMID 12136106. doi:10.1093/nar/gkf443.