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

    Gene ID: 9969, updated on 2-Nov-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
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (61942605..62065278, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (62811562..62934215, complement)
    RS_2024_09 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 DNA 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 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. 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
    2. 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
    3. Could the MED13 mutations manifest as a Kabuki-like syndrome? De Nardi L, et al. Am J Med Genet A, 2021 Feb. PMID 33258286
    4. Potential roles of mediator Complex Subunit 13 in Cardiac Diseases. Zhou W, et al. Int J Biol Sci, 2021. PMID 33390853, 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 (85) 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
    		Compare labs

    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 protein binding IPI
    Inferred from Physical Interaction
    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 negative regulation of DNA-binding transcription factor activity 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_2024_08

    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

    Gene LinkOut

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