Property Summary

NCBI Gene PubMed Count 16
PubMed Score 11.65
PubTator Score 11.04

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (10)

Disease log2 FC p
Rheumatoid Arthritis 2.000 2.9e-03
malignant mesothelioma 1.200 1.1e-05
astrocytoma 1.300 5.0e-03
ependymoma 1.300 3.9e-02
oligodendroglioma 1.200 7.7e-03
psoriasis -1.700 3.0e-10
osteosarcoma -2.321 8.0e-09
lung adenocarcinoma -1.500 2.1e-12
Pick disease 1.300 1.2e-05
ovarian cancer -1.300 3.2e-05

Gene RIF (9)

PMID Text
25758992 Heterozygous MED13L variants cause transposition of the great arterie.
25712080 Analysis of genomic data in connection with deep clinical evaluation of patients could elucidate genetic heterogeneity of the MED13L haploinsufficiency phenotype
25249183 A meta-analysis of genome-wide association studies of blood pressure and hypertension in Chinese identified three new loci (CACNA1D, CYP21A2, and MED13L) and a newly discovered variant near SLC4A7.
25137640 Impaired development of neural-crest cell-derived organs and intellectual disability caused by MED13L haploinsufficiency.
23403903 Description of three patients with copy number changes affecting MED13L and delineation of a recognizable MED13L haploinsufficiency syndrome.
22249253 We show that the Mediator complex subunit MED13L is required for Rb/E2F control of cell growth, the complete repression of cell cycle target genes, and cell cycle inhibition.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
15145061 Transcripts were most abundant in skeletal muscle.
14638541 PROSIT240 shows significant homology to the nuclear receptor coactivator TRAP240, suggesting it to be a new component of the thyroid hormone receptor-associated protein (TRAP) complex. PROSIT240 is involved in early heart and brain development.

AA Sequence

MTAAANWVANGASLEDCHSNLFSLAELTGIKWRRYNFGGHGDCGPIISAPAQDDPILLSFIRCLQANLLC      1 - 70
VWRRDVKPDCKELWIFWWGDEPNLVGVIHHELQVVEEGLWENGLSYECRTLLFKAIHNLLERCLMDKNFV     71 - 140
RIGKWFVRPYEKDEKPVNKSEHLSCAFTFFLHGESNVCTSVEIAQHQPIYLINEEHIHMAQSSPAPFQVL    141 - 210
VSPYGLNGTLTGQAYKMSDPATRKLIEEWQYFYPMVLKKKEESKEEDELGYDDDFPVAVEVIVGGVRMVY    211 - 280
PSAFVLISQNDIPVPQSVASAGGHIAVGQQGLGSVKDPSNCGMPLTPPTSPEQAILGESGGMQSAASHLV    281 - 350
SQDGGMITMHSPKRSGKIPPKLHNHMVHRVWKECILNRTQSKRSQMSTPTLEEEPASNPATWDFVDPTQR    351 - 420
VSCSCSRHKLLKRCAVGPNRPPTVSQPGFSAGPSSSSSLPPPASSKHKTAERQEKGDKLQKRPLIPFHHR    421 - 490
PSVAEELCMEQDTPGQKLGLAGIDSSLEVSSSRKYDKQMAVPSRNTSKQMNLNPMDSPHSPISPLPPTLS    491 - 560
PQPRGQETESLDPPSVPVNPALYGNGLELQQLSTLDDRTVLVGQRLPLMAEVSETALYCGIRPSNPESSE    561 - 630
KWWHSYRLPPSDDAEFRPPELQGERCDAKMEVNSESTALQRLLAQPNKRFKIWQDKQPQLQPLHFLDPLP    631 - 700
LSQQPGDSLGEVNDPYTFEDGDIKYIFTANKKCKQGTEKDSLKKNKSEDGFGTKDVTTPGHSTPVPDGKN    701 - 770
AMSIFSSATKTDVRQDNAAGRAGSSSLTQVTDLAPSLHDLDNIFDNSDDDELGAVSPALRSSKMPAVGTE    771 - 840
DRPLGKDGRAAVPYPPTVADLQRMFPTPPSLEQHPAFSPVMNYKDGISSETVTALGMMESPMVSMVSTQL    841 - 910
TEFKMEVEDGLGSPKPEEIKDFSYVHKVPSFQPFVGSSMFAPLKMLPSHCLLPLKIPDACLFRPSWAIPP    911 - 980
KIEQLPMPPAATFIRDGYNNVPSVGSLADPDYLNTPQMNTPVTLNSAAPASNSGAGVLPSPATPRFSVPT    981 - 1050
PRTPRTPRTPRGGGTASGQGSVKYDSTDQGSPASTPSTTRPLNSVEPATMQPIPEAHSLYVTLILSDSVM   1051 - 1120
NIFKDRNFDSCCICACNMNIKGADVGLYIPDSSNEDQYRCTCGFSAIMNRKLGYNSGLFLEDELDIFGKN   1121 - 1190
SDIGQAAERRLMMCQSTFLPQVEGTKKPQEPPISLLLLLQNQHTQPFASLNFLDYISSNNRQTLPCVSWS   1191 - 1260
YDRVQADNNDYWTECFNALEQGRQYVDNPTGGKVDEALVRSATVHSWPHSNVLDISMLSSQDVVRMLLSL   1261 - 1330
QPFLQDAIQKKRTGRTWENIQHVQGPLTWQQFHKMAGRGTYGSEESPEPLPIPTLLVGYDKDFLTISPFS   1331 - 1400
LPFWERLLLDPYGGHRDVAYIVVCPENEALLEGAKTFFRDLSAVYEMCRLGQHKPICKVLRDGIMRVGKT   1401 - 1470
VAQKLTDELVSEWFNQPWSGEENDNHSRLKLYAQVCRHHLAPYLATLQLDSSLLIPPKYQTPPAAAQGQA   1471 - 1540
TPGNAGPLAPNGSAAPPAGSAFNPTSNSSSTNPAASSSASGSSVPPVSSSASAPGISQISTTSSSGFSGS   1541 - 1610
VGGQNPSTGGISADRTQGNIGCGGDTDPGQSSSQPSQDGQESVTERERIGIPTEPDSADSHAHPPAVVIY   1611 - 1680
MVDPFTYAAEEDSTSGNFWLLSLMRCYTEMLDNLPEHMRNSFILQIVPCQYMLQTMKDEQVFYIQYLKSM   1681 - 1750
AFSVYCQCRRPLPTQIHIKSLTGFGPAASIEMTLKNPERPSPIQLYSPPFILAPIKDKQTELGETFGEAS   1751 - 1820
QKYNVLFVGYCLSHDQRWLLASCTDLHGELLETCVVNIALPNRSRRSKVSARKIGLQKLWEWCIGIVQMT   1821 - 1890
SLPWRVVIGRLGRLGHGELKDWSILLGECSLQTISKKLKDVCRMCGISAADSPSILSACLVAMEPQGSFV   1891 - 1960
VMPDAVTMGSVFGRSTALNMQSSQLNTPQDASCTHILVFPTSSTIQVAPANYPNEDGFSPNNDDMFVDLP   1961 - 2030
FPDDMDNDIGILMTGNLHSSPNSSPVPSPGSPSGIGVGSHFQHSRSQGERLLSREAPEELKQQPLALGYF   2031 - 2100
VSTAKAENLPQWFWSSCPQAQNQCPLFLKASLHHHISVAQTDELLPARNSQRVPHPLDSKTTSDVLRFVL   2101 - 2170
EQYNALSWLTCNPATQDRTSCLPVHFVVLTQLYNAIMNIL                                 2171 - 2210
//

Text Mined References (26)

PMID Year Title
27365365 2016 Diverse alternative back-splicing and alternative splicing landscape of circular RNAs.
25758992 2015 Redefining the MED13L syndrome.
25712080 2015 Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome.
25356899 2014 De novo mutations in moderate or severe intellectual disability.
25249183 2015 Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.
25167861 2014 Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
25137640 2014 Impaired development of neural-crest cell-derived organs and intellectual disability caused by MED13L haploinsufficiency.
24781760 2015 Further confirmation of the MED13L haploinsufficiency syndrome.
23403903 2013 Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22249253 2012 A role for Mediator complex subunit MED13L in Rb/E2F-induced growth arrest.
21761138 2012 Meta-analysis of new genome-wide association studies of colorectal cancer risk.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
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.
18691976 2008 Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
15989967 2005 MED1/TRAP220 exists predominantly in a TRAP/ Mediator subpopulation enriched in RNA polymerase II and is required for ER-mediated transcription.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15175163 2004 A set of consensus mammalian mediator subunits identified by multidimensional protein identification technology.
15145061 2004 cDNA cloning and characterization of the human THRAP2 gene which maps to chromosome 12q24, and its mouse ortholog Thrap2.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14638541 2003 Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries).
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12168954 2002 Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones.
10470851 1999 Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.