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MED13 mediator complex subunit 13 [ Homo sapiens (human) ]

Gene ID: 9969, updated on 5-Mar-2024

Summary

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Official Symbol
MED13provided by HGNC
Official Full Name
mediator complex subunit 13provided by HGNC
Primary source
HGNC:HGNC:22474
See related
Ensembl:ENSG00000108510 MIM:603808; AllianceGenome:HGNC:22474
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MRD61; ARC250; THRAP1; DRIP250; HSPC221; TRAP240
Summary
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]
Expression
Ubiquitous expression in thyroid (RPKM 10.6), testis (RPKM 10.3) and 25 other tissues See more
Orthologs
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Genomic context

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See MED13 in Genome Data Viewer
Location:
17q23.2
Exon count:
31
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (61942605..62065278, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (62811562..62934215, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (60019966..60142639, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene BRCA1 interacting helicase 1 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr17:59835525-59836270 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12535 Neighboring gene VISTA enhancer hs778 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12536 Neighboring gene integrator complex subunit 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8802 Neighboring gene RNA, 7SL, cytoplasmic 800, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr17:60114488-60114673 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12537 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8803 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12538 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8804 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:60178273-60178878 Neighboring gene NANOG hESC enhancer GRCh37_chr17:60183965-60184527 Neighboring gene NANOG hESC enhancer GRCh37_chr17:60198431-60198956 Neighboring gene RNA polymerase mitochondrial pseudogene 1 Neighboring gene ribosomal protein S6 kinase B1 pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Potential roles of mediator Complex Subunit 13 in Cardiac Diseases. Zhou W, et al. Int J Biol Sci, 2021. PMID 33390853, Free PMC Article
  2. Could the MED13 mutations manifest as a Kabuki-like syndrome? De Nardi L, et al. Am J Med Genet A, 2021 Feb. PMID 33258286
  3. De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder. Snijders Blok L, et al. Hum Genet, 2018 May. PMID 29740699, Free PMC Article
  4. MED13-dependent signaling from the heart confers leanness by enhancing metabolism in adipose tissue and liver. Baskin KK, et al. EMBO Mol Med, 2014 Dec. PMID 25422356, Free PMC Article
  5. Frameshift Mutations of HSPA4 and MED13 in Gastric and Colorectal Cancers. Jo YS, et al. Pathol Oncol Res, 2016 Oct. PMID 27129500

See all (80) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. MED13 and glycolysis are conserved modifiers of alpha-synuclein-associated neurodegeneration.
    Title: MED13 and glycolysis are conserved modifiers of α-synuclein-associated neurodegeneration.
  2. Potential roles of mediator Complex Subunit 13 in Cardiac Diseases.
    Title: Potential roles of mediator Complex Subunit 13 in Cardiac Diseases.
  3. Could the MED13 mutations manifest as a Kabuki-like syndrome?
    Title: Could the MED13 mutations manifest as a Kabuki-like syndrome?
  4. De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.
    Title: De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.
  5. Each of HSPA4 and MED13 mutations were detected in GC.
    Title: Frameshift Mutations of HSPA4 and MED13 in Gastric and Colorectal Cancers.
  6. Data suggest that MED13, MED12, CDK8 and cyclin C (CycC) comprise a four-subunit "kinase" module of the Mediator complex that functions as a major ingress of oncogenic and developmental signaling/gene expression in humans. [REVIEW]
    Title: Mediator kinase module and human tumorigenesis.
  7. Cardiac overexpression of MED13 in transgenic mice confers a lean phenotype that is associated with increased lipid uptake, beta-oxidation and mitochondrial content in white adipose tissue and liver
    Title: MED13-dependent signaling from the heart confers leanness by enhancing metabolism in adipose tissue and liver.
  8. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  9. Observational study of gene-disease association. (HuGE Navigator)
    Title: The variant rs1867277 in FOXE1 gene confers thyroid cancer susceptibility through the recruitment of USF1/USF2 transcription factors.
  10. Med12 and Med13 are critical for human CDK8 subcomplex -dependent repression, whereas CDK8 kinase activity is not
    Title: The human CDK8 subcomplex is a molecular switch that controls Mediator coactivator function.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Intellectual developmental disorder 61
MedGen: C5231400 OMIM: 618009 GeneReviews: Not available
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EBI GWAS Catalog

Description
Genetic determinants of P wave duration and PR segment.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA0593

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables nuclear receptor coactivator activity NAS
Non-traceable Author Statement
more info
 PubMed 
enables nuclear thyroid hormone receptor binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables nuclear vitamin D receptor binding NAS
Non-traceable Author Statement
more info
 PubMed 
enables transcription coactivator activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables transcription coactivator activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables transcription coregulator activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in cholesterol homeostasis IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
  
involved_in positive regulation of transcription initiation by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in triglyceride homeostasis IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of CKM complex IPI
Inferred from Physical Interaction
more info
 PubMed 
part_of CKM complex ISS
Inferred from Sequence or Structural Similarity
more info
  
part_of mediator complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of mediator complex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in membrane HDA PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
mediator of RNA polymerase II transcription subunit 13
Names
activator-recruited cofactor 250 kDa component
mediator of RNA polymerase II transcription, subunit 13 homolog
thyroid hormone receptor-associated protein 1
thyroid hormone receptor-associated protein complex 240 kDa component
thyroid hormone receptor-associated protein complex component TRAP240
thyroid hormone receptor-associated protein, 240 kDa subunit
vitamin D3 receptor-interacting protein complex component DRIP250

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_046948.1 RefSeqGene

    Range
    5034..127707
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005121.3 → NP_005112.2  mediator of RNA polymerase II transcription subunit 13

    See identical proteins and their annotated locations for NP_005112.2

    Status: REVIEWED

    Source sequence(s)
    AB011165, AC060798, AF117754, BP332524, BQ709424, CN273870
    Consensus CDS
    CCDS42366.1
    UniProtKB/Swiss-Prot
    B2RU05, O60334, Q9UHV7
    Related
    ENSP00000380888.2, ENST00000397786.7
    Conserved Domains (2) summary
    pfam06333
    Location:1640 → 2161
    Med13_C; Mediator complex subunit 13 C-terminal
    pfam11597
    Location:14 → 384
    Med13_N; Mediator complex subunit 13 N-terminal

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    61942605..62065278 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011525551.3 → XP_011523853.1  mediator of RNA polymerase II transcription subunit 13 isoform X1

    Conserved Domains (2) summary
    pfam06333
    Location:1640 → 2108
    Med13_C; Mediator complex subunit 13 C-terminal
    pfam11597
    Location:14 → 384
    Med13_N; Mediator complex subunit 13 N-terminal

  2. XM_011525553.4 → XP_011523855.1  mediator of RNA polymerase II transcription subunit 13 isoform X3

    Conserved Domains (2) summary
    pfam06333
    Location:1417 → 1938
    Med13_C; Mediator complex subunit 13 C-terminal
    pfam11597
    Location:35 → 161
    Med13_N; Mediator complex subunit 13 N-terminal

  3. XM_011525552.3 → XP_011523854.1  mediator of RNA polymerase II transcription subunit 13 isoform X2

    Conserved Domains (2) summary
    pfam06333
    Location:1640 → 1972
    Med13_C; Mediator complex subunit 13 C-terminal
    pfam11597
    Location:14 → 384
    Med13_N; Mediator complex subunit 13 N-terminal

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    62811562..62934215 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054318108.1 → XP_054174083.1  mediator of RNA polymerase II transcription subunit 13 isoform X1

  2. XM_054318110.1 → XP_054174085.1  mediator of RNA polymerase II transcription subunit 13 isoform X3

  3. XM_054318109.1 → XP_054174084.1  mediator of RNA polymerase II transcription subunit 13 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UHV7.3 GenPept UniProtKB/Swiss-Prot:Q9UHV7

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