MED12

Mediator complex subunit 12

Identifiers

MED12; ARC240; CAGH45; FGS1; HOPA; KIAA0192; OKS; OPA1; TNRC11; TRAP230

External IDs

OMIM: 300188 MGI: 1926212 HomoloGene: 68441 GeneCards: MED12 Gene

Gene Ontology
Molecular function	• RNA polymerase II transcription cofactor activity • transcription cofactor activity • transcription coactivator activity • receptor activity • protein C-terminus binding • protein domain specific binding • ligand-dependent nuclear receptor transcription coactivator activity • vitamin D receptor binding • thyroid hormone receptor binding
Cellular component	• nucleus • nucleoplasm • mediator complex
Biological process	• transcription initiation from RNA polymerase II promoter • gene expression • negative regulation of Wnt receptor signaling pathway • steroid hormone receptor signaling pathway • androgen receptor signaling pathway • positive regulation of transcription, DNA-dependent • positive regulation of transcription from RNA polymerase II promoter
Sources: Amigo / QuickGO

RNA expression pattern

More reference expression data

Orthologs

Species

Human

Mouse

n/a

RefSeq (mRNA)

RefSeq (protein)

Location (UCSC)

Chr X:
70.34 – 70.36 Mb

Chr X:
98.47 – 98.49 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] Mutations in MED12 are responsible for at least two different forms of X-linked dominant mental retardation, Lujan-Fryns syndrome and FG syndrome.

1 Interactions
2 References
3 External links
4 Further reading

Interactions

MED12 has been shown to interact with SOX9,^[2] PPARGC1A,^[3] Thyroid hormone receptor alpha,^[4] Estrogen receptor alpha,^[5] MED26,^[6] Cyclin-dependent kinase 8^[4]^[5] and Calcitriol receptor.^[7]^[4]

References

^ "Entrez Gene: MED12 mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9968.
^ Zhou, Rongjia; Bonneaud Nathalie, Yuan Chao-Xing, de Santa Barbara Pascal, Boizet Brigitte, Schomber Tibor, Scherer Gerd, Roeder Robert G, Poulat Francis, Berta Philippe, Tibor Schomber (Jul. 2002). "SOX9 interacts with a component of the human thyroid hormone receptor-associated protein complex". Nucleic Acids Res. (England) 30 (14): 3245–3252. doi:10.1093/nar/gkf443. PMC 135763. PMID 12136106. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=135763.
^ Wallberg, Annika E; Yamamura Soichiro, Malik Sohail, Spiegelman Bruce M, Roeder Robert G (Nov. 2003). "Coordination of p300-mediated chromatin remodeling and TRAP/mediator function through coactivator PGC-1alpha". Mol. Cell (United States) 12 (5): 1137–1149. doi:10.1016/S1097-2765(03)00391-5. ISSN 1097-2765. PMID 14636573.
^ ^a ^b ^c Ito, M; Yuan C X, Malik S, Gu W, Fondell J D, Yamamura S, Fu Z Y, Zhang X, Qin J, Roeder R G (Mar. 1999). "Identity between TRAP and SMCC complexes indicates novel pathways for the function of nuclear receptors and diverse mammalian activators". Mol. Cell (UNITED STATES) 3 (3): 361–370. doi:10.1016/S1097-2765(00)80463-3. ISSN 1097-2765. PMID 10198638.
^ ^a ^b Kang, Yun Kyoung; Guermah Mohamed, Yuan Chao-Xing, Roeder Robert G (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". Proc. Natl. Acad. Sci. U.S.A. (United States) 99 (5): 2642–2647. doi:10.1073/pnas.261715899. ISSN 0027-8424. PMC 122401. PMID 11867769. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=122401.
^ Sato, Shigeo; Tomomori-Sato Chieri, Parmely Tari J, Florens Laurence, Zybailov Boris, Swanson Selene K, Banks Charles A S, Jin Jingji, Cai Yong, Washburn Michael P, Conaway Joan Weliky, Conaway Ronald C (Jun. 2004). "A set of consensus mammalian mediator subunits identified by multidimensional protein identification technology". Mol. Cell (United States) 14 (5): 685–691. doi:10.1016/j.molcel.2004.05.006. ISSN 1097-2765. PMID 15175163.
^ Kitagawa, Hirochika; Fujiki Ryoji, Yoshimura Kimihiro, Mezaki Yoshihiro, Uematsu Yoshikatsu, Matsui Daisuke, Ogawa Satoko, Unno Kiyoe, Okubo Mataichi, Tokita Akifumi, Nakagawa Takeya, Ito Takashi, Ishimi Yukio, Nagasawa Hiromichi, Matsumoto Toshio, Yanagisawa Junn, Kato Shigeaki (Jun. 2003). "The chromatin-remodeling complex WINAC targets a nuclear receptor to promoters and is impaired in Williams syndrome". Cell (United States) 113 (7): 905–917. doi:10.1016/S0092-8674(03)00436-7. ISSN 0092-8674. PMID 12837248.

External links

GeneReviews/NCBI/NIH/UW entry on MED12-Related Disorders

Fondell JD, Ge H, Roeder RG (1996). "Ligand induction of a transcriptionally active thyroid hormone receptor coactivator complex". Proc. Natl. Acad. Sci. U.S.A. 93 (16): 8329–8333. doi:10.1073/pnas.93.16.8329. PMC 38670. PMID 8710870. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=38670.
Nagase T, Seki N, Ishikawa K et al. (1996). "Prediction of the coding sequences of unidentified human genes. V. The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1". DNA Res. 3 (1): 17–24. doi:10.1093/dnares/3.1.17. PMID 8724849.
Yamagata K, Takeda J, Menzel S et al. (1996). "Searching for NIDDM susceptibility genes: studies of genes with triplet repeats expressed in skeletal muscle". Diabetologia 39 (6): 725–730. doi:10.1007/BF00418545. PMID 8781769.
Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
Margolis RL, Abraham MR, Gatchell SB et al. (1997). "cDNAs with long CAG trinucleotide repeats from human brain". Hum. Genet. 100 (1): 114–22. doi:10.1007/s004390050476. PMID 9225980.
Philibert RA, King BH, Winfield S et al. (1998). "Association of an X-chromosome dodecamer insertional variant allele with mental retardation". Mol. Psychiatry 3 (4): 303–309. doi:10.1038/sj.mp.4000442. PMID 9702738.
Ito M, Yuan CX, Malik S et al. (1999). "Identity between TRAP and SMCC complexes indicates novel pathways for the function of nuclear receptors and diverse mammalian activators". Mol. Cell 3 (3): 361–370. doi:10.1016/S1097-2765(00)80463-3. PMID 10198638.
Rachez C, Lemon BD, Suldan Z et al. (1999). "Ligand-dependent transcription activation by nuclear receptors requires the DRIP complex". Nature 398 (6730): 824–828. doi:10.1038/19783. PMID 10235266.
Näär AM, Beaurang PA, Zhou S et al. (1999). "Composite co-activator ARC mediates chromatin-directed transcriptional activation". Nature 398 (6730): 828–832. doi:10.1038/19789. PMID 10235267.
Philibert RA, Winfield SL, Damschroder-Williams P et al. (1999). "The genomic structure and developmental expression patterns of the human OPA-containing gene (HOPA)". Hum. Genet. 105 (1–2): 174–178. doi:10.1007/s004390051084. PMID 10480376.
Joensuu T, Hämäläinen R, Yuan B et al. (2001). "Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3". Am. J. Hum. Genet. 69 (4): 673–684. doi:10.1086/323610. PMC 1226054. PMID 11524702. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1226054.
Beyer KS, Klauck SM, Benner A et al. (2002). "Association studies of the HOPA dodecamer duplication variant in different subtypes of autism". Am. J. Med. Genet. 114 (1): 110–115. doi:10.1002/ajmg.1613. PMID 11840515.
Tchernev VT, Mansfield TA, Giot L et al. (2002). "The Chediak-Higashi protein interacts with SNARE complex and signal transduction proteins". Mol. Med. 8 (1): 56–64. PMC 2039936. PMID 11984006. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2039936.
Ge K, Guermah M, Yuan CX et al. (2002). "Transcription coactivator TRAP220 is required for PPAR gamma 2-stimulated adipogenesis". Nature 417 (6888): 563–567. doi:10.1038/417563a. PMID 12037571.
Zhou R, Bonneaud N, Yuan CX et al. (2002). "SOX9 interacts with a component of the human thyroid hormone receptor-associated protein complex". Nucleic Acids Res. 30 (14): 3245–3252. doi:10.1093/nar/gkf443. PMC 135763. PMID 12136106. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=135763.
Wang Q, Sharma D, Ren Y, Fondell JD (2003). "A coregulatory role for the TRAP-mediator complex in androgen receptor-mediated gene expression". J. Biol. Chem. 277 (45): 42852–42858. doi:10.1074/jbc.M206061200. PMID 12218053.
Strausberg RL, Feingold EA, Grouse LH et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–16903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241.
Sato S, Tomomori-Sato C, Banks CA et al. (2003). "Identification of mammalian Mediator subunits with similarities to yeast Mediator subunits Srb5, Srb6, Med11, and Rox3". J. Biol. Chem. 278 (17): 15123–15127. doi:10.1074/jbc.C300054200. PMID 12584197.
Gwack Y, Baek HJ, Nakamura H et al. (2003). "Principal role of TRAP/mediator and SWI/SNF complexes in Kaposi's sarcoma-associated herpesvirus RTA-mediated lytic reactivation". Mol. Cell. Biol. 23 (6): 2055–2067. doi:10.1128/MCB.23.6.2055-2067.2003. PMC 149486. PMID 12612078. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=149486.
Kitano T, Schwarz C, Nickel B, Pääbo S (2004). "Gene diversity patterns at 10 X-chromosomal loci in humans and chimpanzees". Mol. Biol. Evol. 20 (8): 1281–1289. doi:10.1093/molbev/msg134. PMID 12777533.

MED12

Contents

Interactions

References

External links

Further reading