MED13L Gene

Name	mediator complex subunit 13-like
Description	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]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nMED13L encodes a key subunit of the Mediator complex, which functions as a pivotal bridge linking DNA‐bound transcription factors to RNA polymerase II. By modulating the assembly of the transcriptional preinitiation complex and recruiting chromatin modifiers (such as the acetyltransferase P300), MED13L ensures proper regulation of gene expression and cell cycle progression. Studies employing gene‐silencing, splicing analyses, and in silico modeling have demonstrated that disruption of MED13L impairs regulatory pathways—including the Rb/E2F axis—thereby compromising cellular viability and transcriptional fidelity."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "4"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn developmental contexts, MED13L plays a critical role in embryogenesis, notably in cardiac morphogenesis, neural crest migration, and craniofacial formation. Haploinsufficiency and pathogenic missense mutations in MED13L have been robustly linked to a syndromic constellation marked by congenital heart defects, intellectual disability, speech impairment, hypotonia, and distinctive facial dysmorphisms. Functional studies using zebrafish models and human neural progenitors have further revealed that MED13L disruption perturbs key signaling pathways—such as Wnt and FGF—that are essential for tissue-specific gene expression during development."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "5", "end_ref": "12"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nBeyond its central role in transcriptional control and development, emerging evidence indicates that MED13L also contributes to broader physiological and pathophysiological processes. Genome-wide association studies have identified MED13L variants as novel loci implicated in blood pressure regulation and cardiovascular traits, while investigations in non-small cell lung cancer models have shown that miR-4497-mediated silencing of MED13L disrupts Mediator integrity, thereby reducing oncogene expression and increasing tumor radiosensitivity. These findings, together with the expanding mutational spectrum—including aberrant splicing and copy number changes—further underscore the clinical importance of MED13L and delineate its contribution within the network of Mediator complex components."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "13", "end_ref": "16"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Abidemi Adegbola, Luciana Musante, Bert Callewaert, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "MED13L integrates Mediator-regulated epigenetic control into lung cancer radiosensitivity."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Theranostics (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.7150/thno.48247"}], "href": "https://doi.org/10.7150/thno.48247"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32802198"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32802198"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Jade Fauqueux, Simon Boussion, Caroline Thuillier, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Eur J Hum Genet (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ejhg.2013.17"}], "href": "https://doi.org/10.1038/ejhg.2013.17"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23403903"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23403903"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Kagistia Hana Utami, Cecilia Lanny Winata, Axel M Hillmer, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Impaired development of neural-crest cell-derived organs and intellectual disability caused by MED13L haploinsufficiency."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mutat (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/humu.22636"}], "href": "https://doi.org/10.1002/humu.22636"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25137640"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25137640"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Reza Asadollahi, Markus Zweier, Laura Gogoll, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Eur J Med Genet (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ejmg.2017.06.004"}], "href": "https://doi.org/10.1016/j.ejmg.2017.06.004"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28645799"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28645799"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Concetta Cafiero, Giuseppe Marangi, Daniela Orteschi, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Med Genet A (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ajmg.a.38168"}], "href": "https://doi.org/10.1002/ajmg.a.38168"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28371282"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28371282"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Christopher T Gordon, Maya Chopra, Myriam Oufadem, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries)."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Circulation (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1161/01.CIR.0000103684.77636.CD"}], "href": "https://doi.org/10.1161/01.CIR.0000103684.77636.CD"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "14638541"}], "href": "https://pubmed.ncbi.nlm.nih.gov/14638541"}]}, {"type": "r", "ref": 15, "children": [{"type": "t", "text": "T Smol, F Petit, A Piton, et al. "}, {"type": "b", "children": [{"type": "t", "text": "MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurogenetics (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s10048-018-0541-0"}], "href": "https://doi.org/10.1007/s10048-018-0541-0"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29511999"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29511999"}]}, {"type": "r", "ref": 16, "children": [{"type": "t", "text": "Luciana Musante, Oliver Bartsch, Hans-Hilger Ropers, et al. "}, {"type": "b", "children": [{"type": "t", "text": "cDNA cloning and characterization of the human THRAP2 gene which maps to chromosome 12q24, and its mouse ortholog Thrap2."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Gene (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.gene.2004.02.044"}], "href": "https://doi.org/10.1016/j.gene.2004.02.044"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15145061"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15145061"}]}]}]}
Synonyms	PROSIT240, THRAP2, MRFACD, TRAP240L
Proteins	MD13L_HUMAN
NCBI Gene ID	23389
API
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

MED13L has 11,498 functional associations with biological entities spanning 8 categories (molecular profile, organism, chemical, disease, phenotype or trait, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 124 datasets.

Click the + buttons to view associations for MED13L from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

MED13L Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Achilles Cell Line Gene Essentiality Profiles	cell lines with fitness changed by MED13L gene knockdown relative to other cell lines from the Achilles Cell Line Gene Essentiality Profiles dataset.
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of MED13L gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of MED13L gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of MED13L gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of MED13L gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of MED13L gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of MED13L gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of MED13L gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of MED13L gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of MED13L gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of MED13L gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of MED13L gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of MED13L gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Gene Mutation Profiles	cell lines with MED13L gene mutations from the CCLE Cell Line Gene Mutation Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with MED13L protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with MED13L gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of MED13L gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of MED13L gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of MED13L gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations	phenotypes associated with MED13L gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with MED13L gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI U2OS Cell Map Protein Localization Assemblies	assemblies containing MED13L protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of MED13L gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing MED13L protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing MED13L protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing MED13L protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing MED13L protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with MED13L protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with MED13L protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	CORUM Protein Complexes	protein complexs containing MED13L protein from the CORUM Protein Complexes dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of MED13L gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with MED13L gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with MED13L gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with MED13L gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with MED13L gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by MED13L gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with MED13L gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with MED13L gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with MED13L gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with MED13L gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.