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    MED25 mediator complex subunit 25 [ Homo sapiens (human) ]

    Gene ID: 81857, updated on 7-Apr-2024

    Summary

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    Official Symbol
    MED25provided by HGNC
    Official Full Name
    mediator complex subunit 25provided by HGNC
    Primary source
    HGNC:HGNC:28845
    See related
    Ensembl:ENSG00000104973 MIM:610197; AllianceGenome:HGNC:28845
    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
    P78; ACID1; ARC92; BVSYS; PTOV2; CMT2B2; TCBAP0758
    Summary
    This gene encodes a component of the transcriptional coactivator complex termed the Mediator complex. This complex is required for transcription of most RNA polymerase II-dependent genes. The encoded protein plays a role in chromatin modification and in preinitiation complex assembly. Mutations in this gene are associated with Charcot-Marie-Tooth disease type 2B2. [provided by RefSeq, Apr 2010]
    Expression
    Broad expression in testis (RPKM 24.2), adrenal (RPKM 11.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    19q13.33
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (49818289..49840384)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (52817584..52840522)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (50321546..50343641)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene adaptor related protein complex 2 subunit alpha 1 Neighboring gene uncharacterized LOC124904742 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50303481-50303981 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50305815-50306330 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50306331-50306844 Neighboring gene uncharacterized LOC105372435 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14955 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10936 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:50316420-50317226 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14958 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:50321502-50321668 Neighboring gene fuzzy planar cell polarity protein Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50337816-50338316 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50338317-50338817 Neighboring gene microRNA 6800 Neighboring gene PTOV1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14959 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10938 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14960 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10939 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14961 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14962 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14963 Neighboring gene PTOV1 extended AT-hook containing adaptor protein Neighboring gene PTOV1 antisense RNA 2 Neighboring gene microRNA 4749

    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. Multivalent and Bidirectional Binding of Transcriptional Transactivation Domains to the MED25 Coactivator. Jeffery HM, et al. Biomolecules, 2020 Aug 19. PMID 32825095, Free PMC Article
    2. Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding. Maini I, et al. Neurogenetics, 2021 Mar. PMID 32816121
    3. Analysis of P(78): A Novel Cytoplasmic Membrane-Associated Protein Encoded on Chromosome 19q13.3 in Glioma Specimens. Frankel BM, et al. J Mol Neurosci, 2020 Sep. PMID 32367506
    4. Further delineation of Basel-Vanagaite-Smirin-Yosef syndrome: Report of three patients. Haynes D, et al. Am J Med Genet A, 2020 Jul. PMID 32324310
    5. Frameshift Mutation of MED25, a Transcription Regulator, and its Mutational Heterogeneity in Colorectal Cancers. Jo YS, et al. Pathol Oncol Res, 2016 Oct. PMID 27406034

    See all (73) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. An Unexpected Encounter: Respiratory Syncytial Virus Nonstructural Protein 1 Interacts with Mediator Subunit MED25.
      Title: An Unexpected Encounter: Respiratory Syncytial Virus Nonstructural Protein 1 Interacts with Mediator Subunit MED25.
    2. Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding.
      Title: Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding.
    3. Multivalent and Bidirectional Binding of Transcriptional Transactivation Domains to the MED25 Coactivator.
      Title: Multivalent and Bidirectional Binding of Transcriptional Transactivation Domains to the MED25 Coactivator.
    4. Analysis of P(78): A Novel Cytoplasmic Membrane-Associated Protein Encoded on Chromosome 19q13.3 in Glioma Specimens.
      Title: Analysis of P(78): A Novel Cytoplasmic Membrane-Associated Protein Encoded on Chromosome 19q13.3 in Glioma Specimens.
    5. Further delineation of Basel-Vanagaite-Smirin-Yosef syndrome: Report of three patients.
      Title: Further delineation of Basel-Vanagaite-Smirin-Yosef syndrome: Report of three patients.
    6. recurrent MED25 frameshift mutation in the C7 repeat (c.602delC) that would result in a frameshift mutation (p. Pro201ArgfsX13) were detected in the colorectal cancers with microsatellite instability-high, but not in those with microsatellite-stability
      Title: Frameshift Mutation of MED25, a Transcription Regulator, and its Mutational Heterogeneity in Colorectal Cancers.
    7. FOS strongly binds to the same MED25 site as ETV4 activation domain and JUN interacts with the other two MED25 sites.
      Title: ETV4 and AP1 Transcription Factors Form Multivalent Interactions with three Sites on the MED25 Activator-Interacting Domain.
    8. Med25, a variable member of the Mediator complex, is a coactivator of ligand-activated ERalpha that interacts with ERalpha through its C-terminal LXXLL motif after BPA exposure, and is functionally involved in BPA-induced transcriptional regulation of CYP2C9 expression and enzyme activity.
      Title: Upregulation of human CYP2C9 expression by Bisphenol A via estrogen receptor alpha (ERα) and Med25.
    9. the critical region of chromosome 19 a homozygous variant (c.418C>T, p.Arg140Trp) in Mediator complex subunit 25 predicted as deleterious.
      Title: Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family.
    10. A model is proposed in which the N-terminal transactivation domain of ERM binds the MED25 VP16 H1 binding pocket in a helical conformation.
      Title: Characterization of ERM transactivation domain binding to the ACID/PTOV domain of the Mediator subunit MED25.
    Submit: New GeneRIF Correction See all GeneRIFs (27)

    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
    Charcot-Marie-Tooth disease type 2B2
    MedGen: C1854150 OMIM: 605589 GeneReviews: Not available
    		Compare labs
    Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
    MedGen: C4225323 OMIM: 616449 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies loci affecting blood copper, selenium and zinc.
    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

    • MGC70671, DKFZp434K0512

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables nuclear retinoic acid receptor binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables nuclear retinoid X receptor binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transcription coactivator binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in RNA polymerase II preinitiation complex assembly NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in negative regulation of fibroblast proliferation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of chromatin binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of mediator complex assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of transcription elongation by RNA polymerase II NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of transcription initiation by RNA polymerase II NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of core mediator complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    part_of mediator complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 
    part_of transcription regulator complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    mediator of RNA polymerase II transcription subunit 25
    Names
    ARC/mediator transcriptional coactivator subunit
    activator interaction domain-containing protein 1
    activator-recruited cofactor 92 kDa component
    mediator of RNA polymerase II transcription, subunit 25 homolog
    prostate-derived protein 78 kDa

    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_017091.1 RefSeqGene

      Range
      5001..23702
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_368

    mRNA and Protein(s)

    1. NM_001378355.1 → NP_001365284.1  mediator of RNA polymerase II transcription subunit 25 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC006942, AC018766, KC877749
      Consensus CDS
      CCDS92667.1
      UniProtKB/TrEMBL
      B3KP71, M0QZQ2
      Related
      ENSP00000470692.3, ENST00000593767.3
      Conserved Domains (5) summary
      pfam11232
      Location:400 → 545
      Med25; Mediator complex subunit 25 PTOV activation and synapsin 2
      pfam11235
      Location:228 → 383
      Med25_SD1; Mediator complex subunit 25 synapsin 1
      pfam11244
      Location:664 → 715
      Med25_NR-box; Mediator complex subunit 25 C-terminal NR box-containing
      pfam11265
      Location:12 → 226
      Med25_VWA; Mediator complex subunit 25 von Willebrand factor type A
      pfam18658
      Location:730 → 791
      zf-C2H2_12; Zinc-finger C2H2-type

    2. NM_030973.4 → NP_112235.2  mediator of RNA polymerase II transcription subunit 25 isoform 1

      See identical proteins and their annotated locations for NP_112235.2

      Status: REVIEWED

      Source sequence(s)
      BC065297, DC410997
      Consensus CDS
      CCDS33075.1
      UniProtKB/Swiss-Prot
      A8K095, B9TX30, O95783, Q6P143, Q6QMH5, Q707U4, Q71SY5, Q8TB55, Q9H0L5, Q9HB34
      UniProtKB/TrEMBL
      B4DQP6
      Related
      ENSP00000326767.5, ENST00000312865.10
      Conserved Domains (4) summary
      pfam11232
      Location:400 → 545
      Med25; Mediator complex subunit 25 PTOV activation and synapsin 2
      pfam11235
      Location:228 → 383
      Med25_SD1; Mediator complex subunit 25 synapsin 1
      pfam11244
      Location:664 → 747
      Med25_NR-box; Mediator complex subunit 25 C-terminal NR box-containing
      pfam11265
      Location:12 → 226
      Med25_VWA; Mediator complex subunit 25 von Willebrand factor type A

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      49818289..49840384
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      52817584..52840522
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054322266.1 → XP_054178241.1  mediator of RNA polymerase II transcription subunit 25 isoform X2

    2. XM_054322265.1 → XP_054178240.1  mediator of RNA polymerase II transcription subunit 25 isoform X1

    3. XM_054322267.1 → XP_054178242.1  mediator of RNA polymerase II transcription subunit 25 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q71SY5.2 GenPept UniProtKB/Swiss-Prot:Q71SY5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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