gopubmed logo
find other proteinsAll proteins
GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 19 Aug 2016.

Mediator complex subunit 13-like

THRAP2, PROSIT240, KIAA1025, thyroid hormone receptor associated protein 2, MED13L
The protein encoded by this gene is a subunit of the Mediator complex, a large complex of proteins that functions as a transcriptional coactivator for most RNA polymerase II-transcribed genes. The encoded protein is involved in early development of the heart and brain. Defects in this gene are a cause of transposition of the great arteries, dextro-looped (DTGA).[provided by RefSeq, Jul 2010] (from NCBI)
Top mentioned proteins: POLYMERASE, TRAP240, HAD, SET, OUT
Papers on THRAP2
Somatic MED12 mutations in prostate cancer and uterine leiomyomas promote tumorigenesis through distinct mechanisms.
Vahteristo et al., Helsinki, Finland. In Prostate, Jan 2016
Instead, the L1224F mutation was shown to affect interactions between MED12 and other Mediator components (MED1, MED13, MED13L, MED14, MED15, MED17, and MED24).
Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome.
Zollino et al., Roma, Italy. In Eur J Hum Genet, Nov 2015
MED13L haploinsufficiency has recently been described as responsible for syndromic intellectual disability.
Redefining the MED13L syndrome.
Kalscheuer et al., New York City, United States. In Eur J Hum Genet, Oct 2015
Congenital cardiac and neurodevelopmental deficits have been recently linked to the mediator complex subunit 13-like protein MED13L, a subunit of the CDK8-associated mediator complex that functions in transcriptional regulation through DNA-binding transcription factors and RNA polymerase II.
Genomic structural variants are linked with intellectual disability.
Thompson et al., Moscow, Russia. In J Neural Transm, Sep 2015
19 out of 21 ID cases carried segmental CNV and 20 of 21 them displayed ROH segments with mean size lengths for ID cases 2512 kb (500-6,472 kb) and for healthy control 682 kb (531-986 kb), including the genes MED13L, HRK, FBXW8, TESC, CDK2AP1 and SBNO1.
Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.
Gu et al., Beijing, China. In Hum Mol Genet, Mar 2015
We identified genome-wide significant (P < 5.0 × 10(-8)) associations with blood pressure, which included variants at three new loci (CACNA1D, CYP21A2, and MED13L) and a newly discovered variant near SLC4A7.
Further confirmation of the MED13L haploinsufficiency syndrome.
van Haaften et al., Utrecht, Netherlands. In Eur J Hum Genet, 2015
MED13L haploinsufficiency syndrome has been described in two patients and is characterized by moderate intellectual disability (ID), conotruncal heart defects, facial abnormalities and hypotonia.
Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders.
Cuscó et al., Barcelona, Spain. In Mol Autism, 2014
RESULTS: We detected likely monogenic causes in seven cases: five de novo (SCN2A, MED13L, KCNV1, CUL3, and PTEN) and two inherited X-linked variants (MAOA and CDKL5).
Impaired development of neural-crest cell-derived organs and intellectual disability caused by MED13L haploinsufficiency.
Cacheux et al., Singapore, Singapore. In Hum Mutat, 2014
MED13L is a component subunit of the Mediator complex, an important regulator of transcription that is highly conserved across eukaryotes.
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
Piton et al., Illkirch-Graffenstaden, France. In J Med Genet, 2014
RESULTS: We identified 26 causative mutations: 16 in X-linked genes (ATRX, CUL4B, DMD, FMR1, HCFC1, IL1RAPL1, IQSEC2, KDM5C, MAOA, MECP2, SLC9A6, SLC16A2, PHF8) and 10 de novo in autosomal-dominant genes (DYRK1A, GRIN1, MED13L, TCF4, RAI1, SHANK3, SLC2A1, SYNGAP1).
De novo mutations in moderate or severe intellectual disability.
Michaud et al., Montréal, Canada. In Plos Genet, 2014
A total of 12 likely pathogenic DNMs were identified in genes previously associated with ID (ARID1B, CHD2, FOXG1, GABRB3, GATAD2B, GRIN2B, MBD5, MED13L, SETBP1, TBR1, TCF4, WDR45), resulting in a diagnostic yield of ∼29%.
The clinical significance of small copy number variants in neurodevelopmental disorders.
Rauch et al., Zürich, Switzerland. In J Med Genet, 2014
Two further de novo CNVs affecting single genes (MED13L, CTNND2) were instrumental in delineating novel recurrent conditions.
The roles of mediator complex in cardiovascular diseases.
Napoli et al., Napoli, Italy. In Biochim Biophys Acta, 2014
The first finding of MED involvement in these pathologies was the correlation of missense mutations in MED13L gene with transposition of the great arteries.
Analysis of mutations in 7 candidate genes for dextro-Transposition of the great arteries in Chinese population.
Zhuang et al., Guangzhou, China. In J Thorac Dis, 2014
METHODS: To evaluate whether aberrations in any of the 13 reported mutations in seven genes (MED13L, ZIC3, CFC1, NODAL, FOXH1, GDF1 and NKX2-5) could completely or in part be the genetic component involved in TGA in Chinese population, we screened 102 Chinese patients with d-TGA by direct sequencing for mutations within the seven genes.
Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability.
Rauch et al., Zürich, Switzerland. In Eur J Hum Genet, 2013
A chromosomal balanced translocation disrupting the MED13L (Mediator complex subunit13-like) gene, encoding a subunit of the Mediator complex, was previously associated with transposition of the great arteries (TGA) and intellectual disability (ID), and led to the identification of missense mutations in three patients with isolated TGA.
The SCF-Fbw7 ubiquitin ligase degrades MED13 and MED13L and regulates CDK8 module association with Mediator.
Clurman et al., Seattle, United States. In Genes Dev, 2013
The Mediator complex is an essential transcription regulator that bridges transcription factors with RNA polymerase II.
cDNA cloning and characterization of the human THRAP2 gene which maps to chromosome 12q24, and its mouse ortholog Thrap2.
Kalscheuer et al., Berlin, Germany. In Gene, 2004
Transcripts were most abundant in skeletal muscle.
Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries).
Rappold et al., Heidelberg, Germany. In Circulation, 2004
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.
share on facebooktweetadd +1mail to friends