Property Summary

NCBI Gene PubMed Count 97
PubMed Score 368.82
PubTator Score 141.48

Knowledge Summary


No data available


  Differential Expression (7)

Disease log2 FC p
oligodendroglioma 1.300 4.8e-03
psoriasis -1.300 1.4e-04
osteosarcoma -1.969 6.1e-05
astrocytoma 1.100 1.4e-02
atypical teratoid / rhabdoid tumor 1.100 9.5e-06
medulloblastoma 1.100 4.9e-05
medulloblastoma, large-cell 1.300 9.8e-05

Gene RIF (70)

26891131 Frequent MED12 mutations in uterine leiomyosarcomas
26860948 In conclusion, the authors demonstrated the restriction of MED12 exon 2 mutation to phyllodes tumours (73.6%, 39/53) and its absence in other spindle neoplasms of the breast.
26383637 Specific somatic MED12 mutations in prostate cancer and uterine leiomyomas accumulate in two separate regions of the gene and promote tumorigenesis through clearly distinct mechanisms.
26358559 MED12 gene mutation is associated with Lujan-Fryns syndrome.
26355235 A critical role of TERT promoter mutations, in cooperation with MED12 mutations, in the development of phyllodes tumors.
26338144 Missense mutation in the MED12 gene is associated with hypertonia, eosinophilic esophagitis, penile chordee, and particular facial dysmorphisms beyond Ohdo syndrome.
26193636 leiomyomatous, Med12 c.131G>A variant-expressing uteri developed chromosomal rearrangements.
26182352 Data suggest that MED13, MED12, CDK8 and cyclin C (CycC) comprise a four-subunit "kinase" module of the Mediator complex that functions as a major ingress of oncogenic and developmental signaling/gene expression in humans. [REVIEW]
26093648 the MED12 mutation is implicated in the pathogenesis of both FA and PT and that a certain percentage of FAs with MED12 mutation may progress to PTs.
26037152 the relationship between MED12 mutations and uterine leiomyosarcoma and the lack of expression (by western blot or IHC) in most leiomyosarcoma is not correlated with mutational status.
26018969 Similar to fibroadenomas, breast phyllodes tumours show a high frequency of MED12 mutations, affirming the close biological relationship between these fibroepithelial neoplasms
25964426 This revealed four patients to have two or more tumors that were clonally related, all of which lacked MED12 mutations. DEPDC5 was discovered as a novel tumor suppressor gene playing a role in the progression of uterine leiomyomas.
25931199 The results show frequent occurrence of MED12 mutations in fibroadenomas, intracanalicular fibroadenomas closely resemble benign phyllodes, benign phyllodes tumors harbor MED12 mutations, MED12 mutations in malignant phyllodes tumors are relatively rare.
25865354 Frequent mutations in MED12 exon 2 in the phyllodes tumors suggest that it may share genetic etiology with uterine leiomyoma, a subgroup of uterine leiomyosarcomas and breast fibroadenoma.
25855048 our results suggest that the majority of malignant breast phyllodes tumours may be driven by genetic/epigenetic alterations other than MED12 exon 2 somatic mutations
25839987 MED12 mutations were confined to the stromal components in both phyllodes tumours.
25615570 MED12 mutations were closely associated with the development of uterine leiomyomas, as opposed to other uterine pathologies in Chinese patients, and PCR-based HRMA was found to be a reliable method for the detection of MED12 mutations.
25595892 Additional studies on the role of MED12 mutation status as a putative prognostic factor as well as mutations' exact tumorigenic mechanism in CLL are warranted.
25593300 Results demonstrate frequent MED12 mutations in phyllodes tumors, supporting a shared origin with benign breast fibroadenomas.
25363374 Uterine leiomyoma (UL) pseudocapsules always showed a wild type MED12 gene status, even when associated with a UL harboring a specific MED12 aberration
25325994 The MED12 gene exon 2 is frequently mutated in human uterine fibroids in Southern United States women.
25108465 MED12 is mutated in the vast majority of unselected sporadic uterine leiomyomas.
25038752 MED12 mutations are associated with dysregulated estrogen signaling.
25015674 Mutational analysis of the MED12 gene revealed that leiomyomas exhibited mutations in the MED12 gene
24980722 These results further emphasize the role of MED12 in uterine leiomyomas, show that exon 1 and exon 2 exert their tumorigenic effect in similar manner, and stress that exon 1 should be included in subsequent MED12 screenings.
24938407 MED12 overexpression is a frequent event in castration-resistant prostate cancer
24746821 The oncogenic exon 2 mutations in MED12 uncouple Cyclin C-CDK8/19 from core Mediator implicate aberrant CDK8/19 activity in uterine leiomyomagenesis.
24390224 MED12 mutations and HMGA2 overexpression are independent genetic events that occur in leiomyomas, and they may act differently in the tumorigenesis of uterine leiomyomas.
24196187 pelvic and retroperitoneal leiomyomas harbor an increased frequency of MED12 mutations and histologically unremarkable adjacent myometrium can harbor similar MED12 mutations
24039113 In a cognitively impaired male from this family, who also presented with tall stature and dysmorphism and did not have the MED12 mutation, a 600-kb duplication at 17p13.3 including the YWHAE gene, was found in a mosaic state
23913526 MED12 mutation is associated with uterine leiomyomas.
23661306 Suggest that the p.L1224F mutation in the MED12 gene plays no role in prostate carcinogenesis or that this alteration is only relevant in a small subgroup of tumours.
23635816 Smooth muscle neoplasms with benign appearance of the primary and secondary mullerian system share a similar genetic background of MED12 mutation in combination with oestrogen dependency.
23517922 The lack of mediator complex subunit 12 mutations in extrauterine leiomyomas and leiomyosarcomas indicates that these tumors arise through a different pathway
23443020 The uterine leiomyoma variants harbored MED12 exon 2 mutations significantly less frequently than common leiomyomas.
23395478 Mutations in MED12 are the underlying cause of this X-linked form of Ohdo syndrome.
23347103 Among uterine smooth muscle tumours, MED12 mutations are frequently present in conventional leiomyomas, but are significantly less common in histological variants of leiomyoma and leiomyosarcoma.
23225304 MED12 mutations occurring in benign and malignant mammalian smooth muscle tumors.
23222489 These findings indicate that MED12 has oncogenic roles in a broad range of smooth muscle neoplasia, including tumors arising in extrauterine locations.
23178117 Study identifies an unexpected activity of MED12 in regulating transforming growth factor b (TGF-b) receptor signaling, as the major mechanism of drug-resistance induction in cancer.
23132392 Somatic MED12 exon 2 mutations were observed in uterine leiomyosarcomas.
23091001 show that the FG/R961W and Lujan/N1007S mutations disrupt the gene-specific association of MED12 with a second Mediator subunit, CDK8
22768200 MED12 alterations could be implicated in the development of smooth muscle tumor and that its expression could be inhibited in malignant tumors.
22532225 MED12 mutations play unique roles in the pathogenesis of uterine leiomyomas and mutated MED12 could be therapeutically targeted in uterine leiomyomas.
22428002 An association between MED12 mutations and leiomyomas in ethnically and racially diverse American women.
22223266 Leiomyomas with MED12 mutations express significantly higher levels of the gene encoding wingless-type MMTV integration site family, member 4 (WNT4) than those with HMGA2 rearrangements.
22182697 a major role of MED12 in the genesis of leiomyomas, regardless of ethnicity
21868628 identified tumor-specific mutations in MED12 gene in 10 of 18 uterine leiomyomas; also found MED12 altered in 70% of tumors from 80 patients;all mutations resided in exon 2 suggesting aberrant function of this region of MED12 contributes to tumorigenesis
21293490 findings show the APP intracellular domain (AICD) activates transcription by targeting MED12; the AICD binds to MED12/Mediator in vitro and in vivo; results identify the MED12 interface in Mediator as a crucial transducer of AICD transactivation
20507344 report on a new family with three Opitz-Kaveggia syndrome affected cousins, in which we identified a novel MED12 mutation
19240132 Med12 and Med13 are critical for subcomplex-dependent repression, whereas CDK8 kinase activity is not
19047373 Med12--but not Med13--is essential for activating the CDK8 kinase.
18973276 Males with this MED12 mutation had deficits in communication skills compared to their socialization and daily living skills.
18691967 These findings implicate Mediator in epigenetic restriction of neuronal gene expression to the nervous system and suggest a pathologic basis for MED12-associated X-linked mental retardation involving impaired REST-dependent neuronal gene regulation.
17716226 Review concludes that a thorough understanding of MED12's role in transcriptional regulation could have significant benefits for human healthcare.
17369503 The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene.
17334363 Recurrent mutation (2881C>T, leading to R961W) in MED12 located at Xq13, linked to Opitz-Kaveggia syndrome.
17299734 the HOPA(12bp) allele is a risk factor for schizophrenia in subjects of European ancestry
17088561 reveal a regulatory role of motionless/Med12 in vertebrate neuronal development
16565090 the MED12 interface within Mediator is a new component in the Wnt/beta-catenin pathway
16538184 Meta-analysis of gene-disease association. (HuGE Navigator)
16538184 The HOPA12bp polymorphism is a significant risk factor for schizophrenia for both men and women.
15108174 Observational study of gene-disease association. (HuGE Navigator)
12860370 Observational study of genotype prevalence. (HuGE Navigator)
12627458 Observational study of gene-disease association. (HuGE Navigator)
12612078 The TRAP230 subunit of TRAP/Mediator was shown to interact directly with RTA.
12216017 Observational study of gene-disease association. (HuGE Navigator)
11840515 Observational study of gene-disease association. (HuGE Navigator)
11840515 It is unlikely that the 12 bp duplication variant has relevance to the susceptibility to different subtypes of autism.
11424983 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

TNIFGRY                                                                  2171 - 2177

Text Mined References (108)

PMID Year Title
26891131 2016 Exome Sequencing of Uterine Leiomyosarcomas Identifies Frequent Mutations in TP53, ATRX, and MED12.
26860948 2016 MED12 exon 2 mutation as a highly sensitive and specific marker in distinguishing phyllodes tumours from other spindle neoplasms of the breast.
26496610 2015 A human interactome in three quantitative dimensions organized by stoichiometries and abundances.
26383637 2016 Somatic MED12 mutations in prostate cancer and uterine leiomyomas promote tumorigenesis through distinct mechanisms.
26358559 2016 Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities?
26355235 2015 TERT promoter mutations are frequent and show association with MED12 mutations in phyllodes tumors of the breast.
26338144 2015 Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum.
26273451 2015 Nonsyndromic X-linked intellectual deficiency in three brothers with a novel MED12 missense mutation [c.5922G>T (p.Glu1974His)].
26193636 2015 Med12 gain-of-function mutation causes leiomyomas and genomic instability.
26182352 2015 Mediator kinase module and human tumorigenesis.
26093648 2015 Mutational analysis of MED12 in fibroadenomas and phyllodes tumors of the breast by means of targeted next-generation sequencing.
26037152 2015 MED12 and uterine smooth muscle oncogenesis: State of the art and perspectives.
26018969 2015 MED12 is frequently mutated in breast phyllodes tumours: a study of 112 cases.
25964426 2015 Clonally related uterine leiomyomas are common and display branched tumor evolution.
25931199 2015 Distribution of MED12 mutations in fibroadenomas and phyllodes tumors of the breast--implications for tumor biology and pathological diagnosis.
25865354 2015 MED12 exon 2 mutations in phyllodes tumors of the breast.
25855048 2015 MED12 somatic mutations in fibroadenomas and phyllodes tumours of the breast.
25839987 2015 Frequent MED12 mutations in phyllodes tumours of the breast.
25615570 2015 High-resolution melting analysis of MED12 mutations in uterine leiomyomas in Chinese patients.
25595892 2015 Somatic MED12 mutations are associated with poor prognosis markers in chronic lymphocytic leukemia.
25593300 2015 Next-Gen Sequencing Exposes Frequent MED12 Mutations and Actionable Therapeutic Targets in Phyllodes Tumors.
25363374 2015 Selective genetic analysis of myoma pseudocapsule and potential biological impact on uterine fibroid medical therapy.
25325994 2015 Novel MED12 gene somatic mutations in women from the Southern United States with symptomatic uterine fibroids.
25108465 2014 MED12 mutation frequency in unselected sporadic uterine leiomyomas.
25038752 2014 Exome sequencing identifies highly recurrent MED12 somatic mutations in breast fibroadenoma.
25015674 2014 Missense mutations in exon 2 of the MED12 gene are involved in IGF-2 overexpression in uterine leiomyoma.
24980722 2014 Mutations in Exon 1 highlight the role of MED12 in uterine leiomyomas.
24938407 2014 MED12 overexpression is a frequent event in castration-resistant prostate cancer.
24746821 2014 Uterine leiomyoma-linked MED12 mutations disrupt mediator-associated CDK activity.
24390224 2014 MED12 and HMGA2 mutations: two independent genetic events in uterine leiomyoma and leiomyosarcoma.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24196187 2014 MED12 exon 2 mutations in uterine and extrauterine smooth muscle tumors.
24129315 2014 Immunoaffinity enrichment and mass spectrometry analysis of protein methylation.
24039113 2013 Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation.
23913526 2014 Exomic landscape of MED12 mutation-negative and -positive uterine leiomyomas.
23661306 2013 Lack of evidence for frequent MED12 p.L1224F mutation in prostate tumours from Caucasian patients.
23635816 2013 Mutation status of the mediator complex subunit 12 (MED12) in uterine leiomyomas and concurrent/metachronous multifocal peritoneal smooth muscle nodules (leiomyomatosis peritonealis disseminata).
23517922 2013 Mediator complex subunit 12 exon 2 mutation analysis in different subtypes of smooth muscle tumors confirms genetic heterogeneity.
23443020 2013 MED12 exon 2 mutations in histopathological uterine leiomyoma variants.
23395478 2013 Mutations in MED12 cause X-linked Ohdo syndrome.
23347103 2013 Prevalence of MED12 mutations in uterine and extrauterine smooth muscle tumours.
23225304 2013 MED12 mutations occurring in benign and malignant mammalian smooth muscle tumors.
23222489 2013 MED12 mutations in leiomyosarcoma and extrauterine leiomyoma.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23178117 2012 MED12 controls the response to multiple cancer drugs through regulation of TGF-? receptor signaling.
23132392 2012 Somatic MED12 mutations in uterine leiomyosarcoma and colorectal cancer.
23091001 2012 MED12 mutations link intellectual disability syndromes with dysregulated GLI3-dependent Sonic Hedgehog signaling.
22768200 2012 MED12 alterations in both human benign and malignant uterine soft tissue tumors.
22532225 2012 Mutational analysis of MED12 exon 2 in uterine leiomyoma and other common tumors.
22428002 2012 Whole exome sequencing in a random sample of North American women with leiomyomas identifies MED12 mutations in majority of uterine leiomyomas.
22223266 2012 MED12 mutations in uterine fibroids--their relationship to cytogenetic subgroups.
22182697 2011 MED12 exon 2 mutations are common in uterine leiomyomas from South African patients.
21868628 2011 MED12, the mediator complex subunit 12 gene, is mutated at high frequency in uterine leiomyomas.
21293490 2011 Mediator is a transducer of amyloid-precursor-protein-dependent nuclear signalling.
21269460 2011 Initial characterization of the human central proteome.
20507344 2011 A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome).
19946888 2010 Defining the membrane proteome of NK cells.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19369195 2009 Large-scale proteomics analysis of the human kinome.
19240132 2009 The human CDK8 subcomplex is a molecular switch that controls Mediator coactivator function.
19047373 2009 The human CDK8 subcomplex is a histone kinase that requires Med12 for activity and can function independently of mediator.
18973276 2008 Behavior of 10 patients with FG syndrome (Opitz-Kaveggia syndrome) and the p.R961W mutation in the MED12 gene.
18691976 2008 Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.
18691967 2008 Mediator links epigenetic silencing of neuronal gene expression with x-linked mental retardation.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17716226 2007 Role of MED12 in transcription and human behavior.
17369503 2007 The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene.
17334363 2007 A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome.
17299734 2007 The association of the HOPA(12bp) polymorphism with schizophrenia in the NIMH Genetics Initiative for Schizophrenia sample.
17088561 2006 A subunit of the mediator complex regulates vertebrate neuronal development.
17081983 2006 Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
17000779 2006 Mediator modulates Gli3-dependent Sonic hedgehog signaling.
16595664 2006 Human Mediator enhances basal transcription by facilitating recruitment of transcription factor IIB during preinitiation complex assembly.
16565090 2006 Mediator is a transducer of Wnt/beta-catenin signaling.
16538184 2006 A meta-analysis of the association of the HOPA12bp polymorphism and schizophrenia.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16109376 2005 The bromodomain protein Brd4 is a positive regulatory component of P-TEFb and stimulates RNA polymerase II-dependent transcription.
15989967 2005 MED1/TRAP220 exists predominantly in a TRAP/ Mediator subpopulation enriched in RNA polymerase II and is required for ER-mediated transcription.
15772651 2005 The DNA sequence of the human X chromosome.
15175163 2004 A set of consensus mammalian mediator subunits identified by multidimensional protein identification technology.
15108174 2004 Association of the HOPA12bp allele with a large X-chromosome haplotype and positive symptom schizophrenia.
14638676 2004 A mammalian mediator subunit that shares properties with Saccharomyces cerevisiae mediator subunit Cse2.
12860370 2003 No association of a dodecamer duplication in the human opposite paired (HOPA) gene with mental retardation and schizophrenia in Chinese patients from Taiwan.
12777533 2003 Gene diversity patterns at 10 X-chromosomal loci in humans and chimpanzees.
12627458 2003 Association analysis of the HOPA12bp polymorphism in schizophrenia and manic depressive illness.
12612078 2003 Principal role of TRAP/mediator and SWI/SNF complexes in Kaposi's sarcoma-associated herpesvirus RTA-mediated lytic reactivation.
12584197 2003 Identification of mammalian Mediator subunits with similarities to yeast Mediator subunits Srb5, Srb6, Med11, and Rox3.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12218053 2002 A coregulatory role for the TRAP-mediator complex in androgen receptor-mediated gene expression.
12216017 The association of a HOPA polymorphism with major depression and phobia.
12136106 2002 SOX9 interacts with a component of the human thyroid hormone receptor-associated protein complex.
12037571 2002 Transcription coactivator TRAP220 is required for PPAR gamma 2-stimulated adipogenesis.
11984006 2002 The Chediak-Higashi protein interacts with SNARE complex and signal transduction proteins.
11867769 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.
11524702 2001 Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.
11424983 2001 Population-based association analyses of the HOPA12bp polymorphism for schizophrenia and hypothyroidism.
10480376 The genomic structure and developmental expression patterns of the human OPA-containing gene (HOPA).
10235267 1999 Composite co-activator ARC mediates chromatin-directed transcriptional activation.
10235266 1999 Ligand-dependent transcription activation by nuclear receptors requires the DRIP complex.
10198638 1999 Identity between TRAP and SMCC complexes indicates novel pathways for the function of nuclear receptors and diverse mammalian activators.
9702738 1998 Association of an X-chromosome dodecamer insertional variant allele with mental retardation.
9375929 1997 A gene for FG syndrome maps in the Xq12-q21.31 region.
9225980 1997 cDNAs with long CAG trinucleotide repeats from human brain.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
8781769 1996 Searching for NIDDM susceptibility genes: studies of genes with triplet repeats expressed in skeletal muscle.
8724849 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.
8710870 1996 Ligand induction of a transcriptionally active thyroid hormone receptor coactivator complex.