Property Summary

NCBI Gene PubMed Count 97
Grant Count 32
R01 Count 17
Funding $2,861,308.59
PubMed Score 368.82
PubTator Score 141.48

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

Disease log2 FC p
oligodendroglioma 1.300 0.005
psoriasis -1.300 0.000
osteosarcoma -1.969 0.000
astrocytoma 1.100 0.014
atypical teratoid / rhabdoid tumor 1.100 0.000
medulloblastoma 1.100 0.000
medulloblastoma, large-cell 1.300 0.000

Gene RIF (70)

PMID Text
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.
More...

AA Sequence

MAAFGILSYEHRPLKRPRLGPPDVYPQDPKQKEDELTALNVKQGFNNQPAVSGDEHGSAKNVSFNPAKIS      1 - 70
SNFSSIIAEKLRCNTLPDTGRRKPQVNQKDNFWLVTARSQSAINTWFTDLAGTKPLTQLAKKVPIFSKKE     71 - 140
EVFGYLAKYTVPVMRAAWLIKMTCAYYAAISETKVKKRHVDPFMEWTQIITKYLWEQLQKMAEYYRPGPA    141 - 210
GSGGCGSTIGPLPHDVEVAIRQWDYTEKLAMFMFQDGMLDRHEFLTWVLECFEKIRPGEDELLKLLLPLL    211 - 280
LRYSGEFVQSAYLSRRLAYFCTRRLALQLDGVSSHSSHVISAQSTSTLPTTPAPQPPTSSTPSTPFSDLL    281 - 350
MCPQHRPLVFGLSCILQTILLCCPSALVWHYSLTDSRIKTGSPLDHLPIAPSNLPMPEGNSAFTQQVRAK    351 - 420
LREIEQQIKERGQAVEVRWSFDKCQEATAGFTIGRVLHTLEVLDSHSFERSDFSNSLDSLCNRIFGLGPS    421 - 490
KDGHEISSDDDAVVSLLCEWAVSCKRSGRHRAMVVAKLLEKRQAEIEAERCGESEAADEKGSIASGSLSA    491 - 560
PSAPIFQDVLLQFLDTQAPMLTDPRSESERVEFFNLVLLFCELIRHDVFSHNMYTCTLISRGDLAFGAPG    561 - 630
PRPPSPFDDPADDPEHKEAEGSSSSKLEDPGLSESMDIDPSSSVLFEDMEKPDFSLFSPTMPCEGKGSPS    631 - 700
PEKPDVEKEVKPPPKEKIEGTLGVLYDQPRHVQYATHFPIPQEESCSHECNQRLVVLFGVGKQRDDARHA    701 - 770
IKKITKDILKVLNRKGTAETDQLAPIVPLNPGDLTFLGGEDGQKRRRNRPEAFPTAEDIFAKFQHLSHYD    771 - 840
QHQVTAQVSRNVLEQITSFALGMSYHLPLVQHVQFIFDLMEYSLSISGLIDFAIQLLNELSVVEAELLLK    841 - 910
SSDLVGSYTTSLCLCIVAVLRHYHACLILNQDQMAQVFEGLCGVVKHGMNRSDGSSAERCILAYLYDLYT    911 - 980
SCSHLKNKFGELFSDFCSKVKNTIYCNVEPSESNMRWAPEFMIDTLENPAAHTFTYTGLGKSLSENPANR    981 - 1050
YSFVCNALMHVCVGHHDPDRVNDIAILCAELTGYCKSLSAEWLGVLKALCCSSNNGTCGFNDLLCNVDVS   1051 - 1120
DLSFHDSLATFVAILIARQCLLLEDLIRCAAIPSLLNAACSEQDSEPGARLTCRILLHLFKTPQLNPCQS   1121 - 1190
DGNKPTVGIRSSCDRHLLAASQNRIVDGAVFAVLKAVFVLGDAELKGSGFTVTGGTEELPEEEGGGGSGG   1191 - 1260
RRQGGRNISVETASLDVYAKYVLRSICQQEWVGERCLKSLCEDSNDLQDPVLSSAQAQRLMQLICYPHRL   1261 - 1330
LDNEDGENPQRQRIKRILQNLDQWTMRQSSLELQLMIKQTPNNEMNSLLENIAKATIEVFQQSAETGSSS   1331 - 1400
GSTASNMPSSSKTKPVLSSLERSGVWLVAPLIAKLPTSVQGHVLKAAGEELEKGQHLGSSSRKERDRQKQ   1401 - 1470
KSMSLLSQQPFLSLVLTCLKGQDEQREGLLTSLYSQVHQIVNNWRDDQYLDDCKPKQLMHEALKLRLNLV   1471 - 1540
GGMFDTVQRSTQQTTEWAMLLLEIIISGTVDMQSNNELFTTVLDMLSVLINGTLAADMSSISQGSMEENK   1541 - 1610
RAYMNLAKKLQKELGERQSDSLEKVRQLLPLPKQTRDVITCEPQGSLIDTKGNKIAGFDSIFKKEGLQVS   1611 - 1680
TKQKISPWDLFEGLKPSAPLSWGWFGTVRVDRRVARGEEQQRLLLYHTHLRPRPRAYYLEPLPLPPEDEE   1681 - 1750
PPAPTLLEPEKKAPEPPKTDKPGAAPPSTEERKKKSTKGKKRSQPATKTEDYGMGPGRSGPYGVTVPPDL   1751 - 1820
LHHPNPGSITHLNYRQGSIGLYTQNQPLPAGGPRVDPYRPVRLPMQKLPTRPTYPGVLPTTMTGVMGLEP   1821 - 1890
SSYKTSVYRQQQPAVPQGQRLRQQLQQSQGMLGQSSVHQMTPSSSYGLQTSQGYTPYVSHVGLQQHTGPA   1891 - 1960
GTMVPPSYSSQPYQSTHPSTNPTLVDPTRHLQQRPSGYVHQQAPTYGHGLTSTQRFSHQTLQQTPMISTM   1961 - 2030
TPMSAQGVQAGVRSTAILPEQQQQQQQQQQQQQQQQQQQQQQQQQQYHIRQQQQQQILRQQQQQQQQQQQ   2031 - 2100
QQQQQQQQQQQQQQQHQQQQQQQAAPPQPQPQSQPQFQRQGLQQTQQQQQTAALVRQLQQQLSNTQPQPS   2101 - 2170
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.
More...