MED12

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Mediator complex subunit 12
Identifiers
Symbols MED12 ; ARC240; CAGH45; FGS1; HOPA; MED12S; OHDOX; OKS; OPA1; TNRC11; TRAP230
External IDs OMIM300188 MGI1926212 HomoloGene68441 GeneCards: MED12 Gene
RNA expression pattern
PBB GE MED12 203506 s at tn.png
PBB GE MED12 211342 x at tn.png
PBB GE MED12 216071 x at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 9968 59024
Ensembl ENSG00000184634 ENSMUSG00000079487
UniProt Q93074 A2AGH6
RefSeq (mRNA) NM_005120 NM_021521
RefSeq (protein) NP_005111 NP_067496
Location (UCSC) Chr X:
70.34 – 70.36 Mb
Chr X:
101.27 – 101.3 Mb
PubMed search [1] [2]

Mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae), also known as MED12, is a human gene found on the X chromosome.[1]

Clinical significance[edit]

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.[2]

Mutations in MED12 are associated to uterine leiomyomas .[3]

Interactions[edit]

MED12 has been shown to interact with:

References[edit]

  1. ^ "Entrez Gene: MED12 mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)". 
  2. ^ 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 (June 2012). "Exome sequencing identifies recurrent SPOP, FOXA1 and MED12 mutations in prostate cancer". Nat. Genet. 44 (6): 685–9. doi:10.1038/ng.2279. PMC 3673022. PMID 22610119. 
  3. ^ Kämpjärvi, K; Park, M. J.; Mehine, M; Kim, N. H.; Clark, A. D.; Bützow, R; Böhling, T; Böhm, J; Mecklin, J. P.; Järvinen, H; Tomlinson, I. P.; Van Der Spuy, Z. M.; Sjöberg, J; Boyer, T. G.; Vahteristo, P (2014). "Mutations in Exon 1 Highlight the Role of MED12 in Uterine Leiomyomas". Human Mutation 35: 1136–41. doi:10.1002/humu.22612. PMID 24980722.  edit
  4. ^ a b c Ito M, Yuan CX, Malik S, Gu W, Fondell JD, Yamamura S, Fu ZY, Zhang X, Qin J, Roeder RG (March 1999). "Identity between TRAP and SMCC complexes indicates novel pathways for the function of nuclear receptors and diverse mammalian activators". Mol. Cell 3 (3): 361–70. doi:10.1016/S1097-2765(00)80463-3. PMID 10198638. 
  5. ^ 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 (June 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. 
  6. ^ a b Kang YK, Guermah M, Yuan CX, Roeder RG (March 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". Proc. Natl. Acad. Sci. U.S.A. 99 (5): 2642–7. doi:10.1073/pnas.261715899. PMC 122401. PMID 11867769. 
  7. ^ Wallberg AE, Yamamura S, Malik S, Spiegelman BM, Roeder RG (November 2003). "Coordination of p300-mediated chromatin remodeling and TRAP/mediator function through coactivator PGC-1alpha". Mol. Cell 12 (5): 1137–49. doi:10.1016/S1097-2765(03)00391-5. PMID 14636573. 
  8. ^ 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 (June 2004). "A set of consensus mammalian mediator subunits identified by multidimensional protein identification technology". Mol. Cell 14 (5): 685–91. doi:10.1016/j.molcel.2004.05.006. PMID 15175163. 
  9. ^ Zhou R, Bonneaud N, Yuan CX, de Santa Barbara P, Boizet B, Schomber T, Scherer G, Roeder RG, Poulat F, Berta P, Tibor S (July 2002). "SOX9 interacts with a component of the human thyroid hormone receptor-associated protein complex". Nucleic Acids Res. 30 (14): 3245–52. doi:10.1093/nar/gkf443. PMC 135763. PMID 12136106. 

Further reading[edit]

External links[edit]