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MED12

From Wikipedia, the free encyclopedia
Protein-coding gene in humans

MED12
Identifiers
AliasesMED12, ARC240, CAGH45, FGS1, HOPA, MED12S, OHDOX, OKS, OPA1, TNRC11, TRAP230, mediator complex subunit 12, Kto, HDKR
External IDsOMIM:300188;MGI:1926212;HomoloGene:68441;GeneCards:MED12;OMA:MED12 - orthologs
Gene location (Human)
X chromosome (human)
Chr.X chromosome (human)[1]
X chromosome (human)
Genomic location for MED12
Genomic location for MED12
BandXq13.1Start71,118,543bp[1]
End71,144,103bp[1]
Gene location (Mouse)
X chromosome (mouse)
Chr.X chromosome (mouse)[2]
X chromosome (mouse)
Genomic location for MED12
Genomic location for MED12
BandX|X DStart100,317,636bp[2]
End100,341,071bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • right adrenal cortex

  • left ovary

  • right ovary

  • left adrenal gland

  • left adrenal cortex

  • body of uterus

  • right uterine tube

  • spleen

  • canal of the cervix

  • right lobe of thyroid gland
Top expressed in
  • bone marrow

  • tail of embryo

  • islet of Langerhans

  • spleen

  • genital tubercle

  • neural layer of retina

  • thymus

  • adrenal gland

  • cerebellar cortex

  • granulocyte
More reference expression data
BioGPS




More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
Orthologs
SpeciesHumanMouse
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: 71.12 – 71.14 MbChr X: 100.32 – 100.34 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae), also known asMED12, is a humangene found on theX chromosome.[5]

Clinical significance

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Mutations inMED12 are responsible for at least two different forms ofX-linked dominantIntellectual disability,Lujan-Fryns syndrome andFG syndrome, as well as instances of prostate cancer.[6]

Mutations inMED12 are associated with uterineleiomyomas[7] and breast fibroepithelial tumors (e.g.fibroadenoma andphyllodes tumors).[8]

Interactions

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MED12 has been shown tointeract with:

References

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  1. ^abcGRCh38: Ensembl release 89: ENSG00000184634 –Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000079487 –Ensembl, May 2017
  3. ^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^"Entrez Gene: MED12 mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)".
  6. ^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 (Jun 2012)."Exome sequencing identifies recurrent SPOP, FOXA1 and MED12 mutations in prostate cancer"(PDF).Nature Genetics.44 (6):685–9.doi:10.1038/ng.2279.hdl:1721.1/84658.PMC 3673022.PMID 22610119.
  7. ^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 (Sep 2014)."Mutations in Exon 1 highlight the role of MED12 in uterine leiomyomas".Human Mutation.35 (9):1136–41.doi:10.1002/humu.22612.PMID 24980722.S2CID 13931280.
  8. ^Piscuoglio S, Murray M, Fusco N, Marchiò C, Loo FL, Martelotto LG, Schultheis AM, Akram M, Weigelt B, Brogi E, Reis-Filho JS (Nov 2015)."MED12 somatic mutations in fibroadenomas and phyllodes tumours of the breast".Histopathology.67 (5):719–29.doi:10.1111/his.12712.PMC 4996373.PMID 25855048.
  9. ^abcIto M, Yuan CX, Malik S, Gu W, Fondell JD, Yamamura S, Fu ZY, Zhang X, Qin J, Roeder RG (Mar 1999)."Identity between TRAP and SMCC complexes indicates novel pathways for the function of nuclear receptors and diverse mammalian activators".Molecular Cell.3 (3):361–70.doi:10.1016/S1097-2765(00)80463-3.PMID 10198638.
  10. ^abKang YK, Guermah M, Yuan CX, Roeder RG (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".Proceedings of the National Academy of Sciences of the United States of America.99 (5):2642–7.Bibcode:2002PNAS...99.2642K.doi:10.1073/pnas.261715899.PMC 122401.PMID 11867769.
  11. ^Wallberg AE, Yamamura S, Malik S, Spiegelman BM, Roeder RG (Nov 2003)."Coordination of p300-mediated chromatin remodeling and TRAP/mediator function through coactivator PGC-1alpha".Molecular Cell.12 (5):1137–49.doi:10.1016/S1097-2765(03)00391-5.PMID 14636573.
  12. ^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 (Jun 2004)."A set of consensus mammalian mediator subunits identified by multidimensional protein identification technology".Molecular Cell.14 (5):685–91.doi:10.1016/j.molcel.2004.05.006.PMID 15175163.
  13. ^Zhou R, Bonneaud N, Yuan CX, de Santa Barbara P, Boizet B, Schomber T, Scherer G, Roeder RG, Poulat F, Berta P, Tibor S (Jul 2002)."SOX9 interacts with a component of the human thyroid hormone receptor-associated protein complex".Nucleic Acids Research.30 (14):3245–52.doi:10.1093/nar/gkf443.PMC 135763.PMID 12136106.

Further reading

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External links

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