MED17 Gene

Name	mediator complex subunit 17
Description	The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. [provided by RefSeq, Jul 2008]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nRecent genetic studies have identified deleterious mutations in MED17 as the cause of severe neurodevelopmental disorders. In patients presenting with infantile cerebral and cerebellar atrophy, microcephaly, epilepsy, and profound psychomotor retardation, a founder missense change (p.L371P) along with other rare variants (e.g., p.Trp291Gly) has been reported. These mutations, which segregate in families of specific ancestries, underscore the importance of MED17 in normal brain development and function."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "3"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nAt the molecular level, MED17 functions as an essential subunit of the Mediator complex—specifically within its head module—and plays a pivotal role in transcriptional regulation. The Mediator complex interfaces with RNA polymerase II and general transcription factors (e.g., TFIIB, TBP, TFIIE, and TFIIH) to facilitate activator-induced structural shifts that convert stalled transcription into productive elongation. These findings highlight that, as part of the broader Mediator assembly, MED17 is key to integrating upstream regulatory signals with the basal transcription machinery."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nBeyond its canonical role in transcription, MED17 is also a target for regulatory modifications that affect downstream signaling pathways. Notably, phosphorylation of MED17 at serine 152 by MARK2 has been demonstrated to modulate NF‑κB–dependent transcription, thereby linking cell polarity signaling to innate immune responses. In parallel, patient-derived cellular models with MED17 mutations exhibit heightened unfolded protein responses, suggesting that proper MED17 function is critical for maintaining cellular homeostasis under stress conditions."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Rami Kaufmann, Rachel Straussberg, Hanna Mandel, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajhg.2010.09.016"}], "href": "https://doi.org/10.1016/j.ajhg.2010.09.016"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20950787"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20950787"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Aviva Fattal-Valevski, Liat Ben Sira, Tally Lerman-Sagie, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Delineation of the phenotype of MED17-related disease in Caucasus-Jewish families."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Eur J Paediatr Neurol (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ejpn.2020.08.011"}], "href": "https://doi.org/10.1016/j.ejpn.2020.08.011"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33756211"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33756211"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Rafiullah Rafiullah, Alia M Albalawi, Sultan R Alaradi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "An expansion of phenotype: novel homozygous variant in the "}, {"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "MED17"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "t", "text": " identified in patients with progressive microcephaly and global developmental delay."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neurogenet (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1080/01677063.2022.2149748"}], "href": "https://doi.org/10.1080/01677063.2022.2149748"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "36508181"}], "href": "https://pubmed.ncbi.nlm.nih.gov/36508181"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Matthew T Knuesel, Dylan J Taatjes "}, {"type": "b", "children": [{"type": "t", "text": "Mediator and post-recruitment regulation of RNA polymerase II."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Transcription (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.4161/trns.2.1.13950"}], "href": "https://doi.org/10.4161/trns.2.1.13950"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21326907"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21326907"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Yuko Kikuchi, Hiroyasu Umemura, Saori Nishitani, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Human mediator MED17 subunit plays essential roles in gene regulation by associating with the transcription and DNA repair machineries."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genes Cells (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/gtc.12210"}], "href": "https://doi.org/10.1111/gtc.12210"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25482373"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25482373"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Anastasia Mashukova, Radia Forteza, Viraj N Shah, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The cell polarity kinase Par1b/MARK2 activation selects specific NF-kB transcripts via phosphorylation of core mediator Med17/TRAP80."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Biol Cell (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1091/mbc.E20-10-0646"}], "href": "https://doi.org/10.1091/mbc.E20-10-0646"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33596087"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33596087"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Takeshi Terabayashi, Satoru Hashimoto "}, {"type": "b", "children": [{"type": "t", "text": "Increased unfolded protein responses caused by MED17 mutations."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurogenetics (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s10048-021-00661-6"}], "href": "https://doi.org/10.1007/s10048-021-00661-6"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34392449"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34392449"}]}]}]}
Synonyms	DRIP80, SRB4, TRAP80, CRSP6, CRSP77
Proteins	MED17_HUMAN
NCBI Gene ID	9440
API
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

MED17 has 6,449 functional associations with biological entities spanning 9 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, sequence feature) extracted from 123 datasets.

Click the + buttons to view associations for MED17 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

MED17 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 MED17 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 MED17 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 MED17 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 MED17 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 MED17 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 MED17 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 MED17 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 MED17 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 MED17 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 MED17 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 MED17 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of MED17 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 MED17 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with MED17 protein from the CCLE Cell Line Proteomics dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of MED17 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of MED17 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 MED17 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 MED17 gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with MED17 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI U2OS Cell Map Protein Localization Assemblies	assemblies containing MED17 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 MED17 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing MED17 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing MED17 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with MED17 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 MED17 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	CORUM Protein Complexes	protein complexs containing MED17 protein from the CORUM Protein Complexes dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of MED17 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with MED17 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Disease Associations	diseases associated with MED17 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of MED17 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with MED17 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 MED17 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with MED17 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with MED17 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at MED17 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of MED17 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of MED17 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing MED17 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GDSC Cell Line Gene Expression Profiles	cell lines with high or low expression of MED17 gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset.
	GeneRIF Biological Term Annotations	biological terms co-occuring with MED17 gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.