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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
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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

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