MED13 Gene (Protein Coding)

Mediator Complex Subunit 13

GC17M061942
GIFtS:
41
This gene encodes a component of the mediator complex (also known as TRAP, SMCC, DRIP, or ARC), a transcriptional coactivator complex thought to be required for the expression of almost all genes. The mediator complex is recruited by transcriptional activators or nuclear receptors to induce gene expression, possibly by interacting with RNA polymerase II and promoting the format... See more...

Aliases for MED13 Gene

Aliases for MED13 Gene

  • Mediator Complex Subunit 13 2 3 4 5
  • TRAP240 2 3 4
  • Thyroid Hormone Receptor-Associated Protein Complex 240 KDa Component 3 4
  • Vitamin D3 Receptor-Interacting Protein Complex Component DRIP250 3 4
  • Mediator Of RNA Polymerase II Transcription Subunit 13 3 4
  • Activator-Recruited Cofactor 250 KDa Component 3 4
  • Thyroid Hormone Receptor-Associated Protein 1 3 4
  • KIAA0593 2 4
  • DRIP250 3 4
  • ARC250 3 4
  • THRAP1 3 4
  • Thyroid Hormone Receptor-Associated Protein Complex Component TRAP240 3
  • Mediator Of RNA Polymerase II Transcription, Subunit 13 Homolog 3
  • Thyroid Hormone Receptor-Associated Protein, 240 KDa Subunit 3
  • Thyroid Hormone Receptor Associated Protein 1 2
  • HSPC221 3
  • Trap240 4
  • MRD61 3
  • MED13 5

External Ids for MED13 Gene

Previous HGNC Symbols for MED13 Gene

  • THRAP1

Previous GeneCards Identifiers for MED13 Gene

  • GC17M057374
  • GC17M060019
  • GC17M055388

Summaries for MED13 Gene

Entrez Gene Summary for MED13 Gene

  • This gene encodes a component of the mediator complex (also known as TRAP, SMCC, DRIP, or ARC), a transcriptional coactivator complex thought to be required for the expression of almost all genes. The mediator complex is recruited by transcriptional activators or nuclear receptors to induce gene expression, possibly by interacting with RNA polymerase II and promoting the formation of a transcriptional pre-initiation complex. The product of this gene is proposed to form a sub-complex with MED12, cyclin C, and CDK8 that can negatively regulate transactivation by mediator. [provided by RefSeq, Jul 2008]

GeneCards Summary for MED13 Gene

MED13 (Mediator Complex Subunit 13) is a Protein Coding gene. Diseases associated with MED13 include Intellectual Developmental Disorder, Autosomal Dominant 61 and Non-Specific Syndromic Intellectual Disability. Among its related pathways are Thyroid hormone signaling pathway and PEDF Induced Signaling. Gene Ontology (GO) annotations related to this gene include transcription coregulator activity. An important paralog of this gene is MED13L.

UniProtKB/Swiss-Prot Summary for MED13 Gene

  • Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors.

Additional gene information for MED13 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MED13 Gene

Genomics for MED13 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for MED13 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MED13 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MED13

Top Transcription factor binding sites by QIAGEN in the MED13 gene promoter:
  • AML1a
  • ATF-2
  • CRE-BP1
  • E47
  • Lmo2
  • Meis-1
  • Meis-1a
  • Meis-1b
  • Pax-3
  • RSRFC4

Genomic Locations for MED13 Gene

Latest Assembly
chr17:61,942,605-62,065,983
(GRCh38/hg38)
Size:
123,379 bases
Orientation:
Minus strand

Previous Assembly
chr17:60,019,966-60,142,639
(GRCh37/hg19 by Entrez Gene)
Size:
122,674 bases
Orientation:
Minus strand

chr17:60,019,966-60,142,643
(GRCh37/hg19 by Ensembl)
Size:
122,678 bases
Orientation:
Minus strand

Genomic View for MED13 Gene

Genes around MED13 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MED13 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MED13 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for MED13 Gene

Proteins for MED13 Gene

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  • Protein details for MED13 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UHV7-MED13_HUMAN
    Recommended name:
    Mediator of RNA polymerase II transcription subunit 13
    Protein Accession:
    Q9UHV7
    Secondary Accessions:
    • B2RU05
    • O60334

    Protein attributes for MED13 Gene

    Size:
    2174 amino acids
    Molecular mass:
    239297 Da
    Quaternary structure:
    • Component of the Mediator complex, which is composed of MED1, MED4, MED6, MED7, MED8, MED9, MED10, MED11, MED12, MED13, MED13L, MED14, MED15, MED16, MED17, MED18, MED19, MED20, MED21, MED22, MED23, MED24, MED25, MED26, MED27, MED29, MED30, MED31, CCNC, CDK8 and CDC2L6/CDK11. The MED12, MED13, CCNC and CDK8 subunits form a distinct module termed the CDK8 module. Mediator containing the CDK8 module is less active than Mediator lacking this module in supporting transcriptional activation. Individual preparations of the Mediator complex lacking one or more distinct subunits have been variously termed ARC, CRSP, DRIP, PC2, SMCC and TRAP.
    SequenceCaution:
    • Sequence=AAD22032.1; Type=Frameshift; Evidence={ECO:0000305};

neXtProt entry for MED13 Gene

Protein Expression for MED13 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for MED13 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MED13 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MED13 Gene

Domains & Families for MED13 Gene

Gene Families for MED13 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins

Protein Domains for MED13 Gene

InterPro:

Suggested Antigen Peptide Sequences for MED13 Gene

GenScript: Design optimal peptide antigens:
  • Vitamin D3 receptor-interacting protein complex component DRIP250 (MED13_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UHV7

UniProtKB/Swiss-Prot:

MED13_HUMAN :
  • Belongs to the Mediator complex subunit 13 family.
Family:
  • Belongs to the Mediator complex subunit 13 family.
genes like me logo Genes that share domains with MED13: view

Function for MED13 Gene

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  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
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  6. Cell Lines for research

Molecular function for MED13 Gene

UniProtKB/Swiss-Prot Function:
Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors.

Phenotypes From GWAS Catalog for MED13 Gene

Gene Ontology (GO) - Molecular Function for MED13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003712 transcription coregulator activity IDA 10198638
GO:0003713 transcription coactivator activity TAS,IDA 12218053
GO:0030374 nuclear receptor transcription coactivator activity NAS 10235266
GO:0042809 vitamin D receptor binding NAS 10235266
GO:0046966 thyroid hormone receptor binding IDA 10198638
genes like me logo Genes that share ontologies with MED13: view
genes like me logo Genes that share phenotypes with MED13: view

Human Phenotype Ontology for MED13 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for research

miRNA for MED13 Gene

miRTarBase miRNAs that target MED13

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MED13

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for MED13 Gene

Localization for MED13 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MED13 Gene

Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MED13 gene
Compartment Confidence
nucleus 5
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
cytosol 2
plasma membrane 1
extracellular 1
peroxisome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MED13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 10235267
GO:0005654 nucleoplasm TAS --
GO:0016020 membrane HDA 19946888
GO:0016592 mediator complex IBA,IDA 10198638
genes like me logo Genes that share ontologies with MED13: view

Pathways & Interactions for MED13 Gene

genes like me logo Genes that share pathways with MED13: view

Pathways by source for MED13 Gene

1 KEGG pathway for MED13 Gene
1 GeneGo (Thomson Reuters) pathway for MED13 Gene
  • Transcription Ligand-Dependent Transcription of Retinoid-Target genes
1 Qiagen pathway for MED13 Gene
  • Glucocorticoid Receptor Signaling

Gene Ontology (GO) - Biological Process for MED13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006357 regulation of transcription by RNA polymerase II IBA 21873635
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
GO:0045893 positive regulation of transcription, DNA-templated IDA 10198638
GO:0045944 positive regulation of transcription by RNA polymerase II IDA --
GO:0060261 positive regulation of transcription initiation from RNA polymerase II promoter IDA 12218053
genes like me logo Genes that share ontologies with MED13: view

No data available for SIGNOR curated interactions for MED13 Gene

Drugs & Compounds for MED13 Gene

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No Compound Related Data Available

Transcripts for MED13 Gene

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mRNA/cDNA for MED13 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MED13

Alternative Splicing Database (ASD) splice patterns (SP) for MED13 Gene

No ASD Table

Relevant External Links for MED13 Gene

GeneLoc Exon Structure for
MED13

Expression for MED13 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MED13 Gene

mRNA expression in normal human tissues for MED13 Gene
mRNA expression by GTEx for MED13 GenemRNA expression by BioGPS for MED13 Gene

Protein differential expression in normal tissues from HIPED for MED13 Gene

This gene is overexpressed in Placenta (27.4), Blymphocyte (25.2), and CD8 Tcells (13.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MED13 Gene



Protein tissue co-expression partners for MED13 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MED13

SOURCE GeneReport for Unigene cluster for MED13 Gene:

Hs.282678

mRNA Expression by UniProt/SwissProt for MED13 Gene:

Q9UHV7-MED13_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for MED13 Gene

  • Nervous system(4.6)
  • Liver(4.4)
  • Muscle(2.7)
  • Heart(2.6)
  • Thyroid gland(2.4)
  • Kidney(2.1)
  • Blood(2)
  • Skin(2)
genes like me logo Genes that share expression patterns with MED13: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for MED13 Gene

Orthologs for MED13 Gene

This gene was present in the common ancestor of animals.

Orthologs for MED13 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia MED13 29 30
  • 99.75 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia MED13 29 30
  • 95.44 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia MED13 29 30
  • 94.99 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Med13 29 16 30
  • 91.85 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Med13 29
  • 91.54 (n)
Oppossum
(Monodelphis domestica)
 Mammalia MED13 30
  • 91 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia MED13 30
  • 89 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves MED13 29 30
  • 81.75 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia -- 30
  • 86 (a)
 OneToMany
-- 30
  • 64 (a)
 OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia med13 29
  • 75.12 (n)
Str.10799 29
African clawed frog
(Xenopus laevis)
 Amphibia Xl.10542 29
Zebrafish
(Danio rerio)
 Actinopterygii med13a 29 30
  • 66.71 (n)
 OneToMany
med13b 30
  • 66 (a)
 OneToMany
Dr.13644 29
Fruit Fly
(Drosophila melanogaster)
 Insecta skd 29 30
  • 48.4 (n)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea let-19 30
  • 16 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 30
  • 38 (a)
 OneToMany
Sea Vase
(Ciona intestinalis)
 Ascidiacea Cin.2069 29
Species where no ortholog for MED13 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for MED13 Gene

ENSEMBL:
Gene Tree for MED13 (if available)
TreeFam:
Gene Tree for MED13 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MED13: view image
Alliance of Genome Resources:
Additional Orthologs for MED13

Paralogs for MED13 Gene

Paralogs for MED13 Gene

(1) SIMAP similar genes for MED13 Gene using alignment to 2 proteins:

  • MED13_HUMAN
  • J3QRB7_HUMAN

Pseudogenes.org Pseudogenes for MED13 Gene

genes like me logo Genes that share paralogs with MED13: view

Variants for MED13 Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MED13 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
1028861 Uncertain Significance: Intellectual developmental disorder 61 61,995,207(-) A/G
NM_005121.3(MED13):c.2126T>C (p.Phe709Ser) 		MISSENSE
810684 Pathogenic: Intellectual developmental disorder 61 61,965,362(-) AG/A
NM_005121.3(MED13):c.4487del (p.Thr1496fs) 		FRAMESHIFT
871755 Uncertain Significance: not provided 61,982,524(-) T/C
NM_005121.3(MED13):c.3479A>G (p.Glu1160Gly) 		MISSENSE
873498 Uncertain Significance: MED13-related neurodevelopmental disorder 62,031,521(-) A/G
NM_005121.3(MED13):c.932T>C (p.Val311Ala) 		MISSENSE
931325 Uncertain Significance: Intellectual developmental disorder 61 62,010,692(-) C/A
NM_005121.3(MED13):c.1825G>T (p.Asp609Tyr) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MED13 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for MED13 Gene

Variant ID Type Subtype PubMed ID
esv3640960 CNV loss 21293372
nsv1109098 CNV deletion 24896259
nsv112179 CNV deletion 16902084
nsv1138564 CNV deletion 24896259

Variation tolerance for MED13 Gene

Residual Variation Intolerance Score: 0.849% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.95; 59.77% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MED13 Gene

Human Gene Mutation Database (HGMD)
MED13
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MED13
Leiden Open Variation Database (LOVD)
MED13

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MED13 Gene

Disorders for MED13 Gene

MalaCards: The human disease database

(7) MalaCards diseases for MED13 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search MED13 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MED13_HUMAN
  • Intellectual developmental disorder 61 (MRD61) [MIM:618009]: An autosomal dominant form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD61 is characterized by global developmental delay apparent in infancy with mildly impaired intellectual development, expressive speech delay, and behavioral abnormalities, including autism spectrum disorder and attention deficit-hyperactivity disorder. Additional features are highly variable and may include non-specific dysmorphic features, obstipation, ocular anomalies, and poor overall growth. {ECO:0000269 PubMed:29740699}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for MED13

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with MED13: view

No data available for Genatlas for MED13 Gene

Publications for MED13 Gene

  1. De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder. (PMID: 29740699) Snijders Blok L … Cooper GM (Human genetics 2018) 3 4 72
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 40
  3. The variant rs1867277 in FOXE1 gene confers thyroid cancer susceptibility through the recruitment of USF1/USF2 transcription factors. (PMID: 19730683) Landa I … Robledo M (PLoS genetics 2009) 3 40
  4. MED1/TRAP220 exists predominantly in a TRAP/ Mediator subpopulation enriched in RNA polymerase II and is required for ER-mediated transcription. (PMID: 15989967) Zhang X … Roeder RG (Molecular cell 2005) 3 4
  5. A set of consensus mammalian mediator subunits identified by multidimensional protein identification technology. (PMID: 15175163) Sato S … Conaway RC (Molecular cell 2004) 3 4

ExternalLinks

View latest publications for MED13 gene in Mastermind

Products for MED13 Gene

  • Addgene plasmids for MED13

Sources for MED13 Gene