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MED25 Gene

protein-coding   GIFtS: 55
GCID: GC19P050321

Mediator Complex Subunit 25

(Previous names: mediator of RNA polymerase II transcription, subunit 25...)
  See MED25-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Mediator Complex Subunit 251 2 3     Mediator Of RNA Polymerase II Transcription, Subunit 25 Homolog (S.
Cerevisiae)1
ARC922 3 5     P782
PTOV22 3 5     ARC/Mediator Transcriptional Coactivator Subunit2
Activator Interaction Domain-Containing Protein 12 3     Mediator Of RNA Polymerase II Transcription Subunit 252
Activator-Recruited Cofactor 92 KDa Component2 3     Mediator Of RNA Polymerase II Transcription, Subunit 25 Homolog2
ACID12 3     Prostate-Derived Protein 78 KDa2
CMT2B22 5     p783

External Ids:    HGNC: 288451   Entrez Gene: 818572   Ensembl: ENSG000001049737   OMIM: 6101975   UniProtKB: Q71SY53   

Export aliases for MED25 gene to outside databases

Previous GC identifers: GC17P017580 GC17P017321 GC19P055016 GC19P046697


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for MED25 Gene:
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)

GeneCards Summary for MED25 Gene:
MED25 (mediator complex subunit 25) is a protein-coding gene. Diseases associated with MED25 include charcot-marie-tooth disease type 2b2, and charcot-marie-tooth neuropathy type 2b2. GO annotations related to this gene include transcription factor binding and retinoid X receptor binding. An important paralog of this gene is PTOV1.

UniProtKB/Swiss-Prot: MED25_HUMAN, Q71SY5
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. Required for
RARA/RXRA-mediated transcription

Gene Wiki entry for MED25 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NC_018930.2  NT_011109.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the MED25 gene promoter:
         Sp1   NF-kappaB1   E47   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMED25 promoter sequence
   Search Chromatin IP Primers for MED25

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MED25


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13.3   Ensembl cytogenetic band:  19q13.33   HGNC cytogenetic band: 19q13.3

MED25 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MED25 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P050321:  view genomic region     (about GC identifiers)

Start:
50,321,536 bp from pter      End:
50,342,073 bp from pter
Size:
20,538 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: MED25_HUMAN, Q71SY5 (See protein sequence)
Recommended Name: Mediator of RNA polymerase II transcription subunit 25  
Size: 747 amino acids; 78171 Da
Subunit: 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. Interacts with CREBBP.
Interacts with ESR1, GR, RARA, RXRA and THRB in a ligand-dependent fashion. Binds the Herpes simplex virus
activator VP16
Sequence caution: Sequence=AAG15589.1; Type=Erroneous initiation; Sequence=CAB66680.1; Type=Frameshift;
Positions=567;
4 PDB 3D structures from and Proteopedia for MED25:
2KY6 (3D)        2L23 (3D)        2L6U (3D)        2XNF (3D)    
Secondary accessions: A8K095 B9TX30 O95783 Q6P143 Q6QMH5 Q707U4 Q8TB55 Q9H0L5 Q9HB34
Alternative splicing: 6 isoforms:  Q71SY5-1   Q71SY5-2   Q71SY5-3   Q71SY5-4   Q71SY5-5   Q71SY5-6   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MED25: NX_Q71SY5

Explore proteomics data for MED25 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys197, Lys484
  • Modification sites at PhosphoSitePlus

  • See MED25 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_112235.2  
    ENSEMBL proteins: 
     ENSP00000326767   ENSP00000470027   ENSP00000437496   ENSP00000470692  
    Reactome Protein details: Q71SY5

    MED25 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Purified Protein for MED25
    OriGene Protein Over-expression Lysate for MED25
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for MED25

     
    Search eBioscience for Proteins for MED25 

    MED25 Antibody Products:

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    Abcam antibodies for MED25
    Cloud-Clone Corp. Antibodies for MED25
    ThermoFisher Antibody for MED25
    LSBio Antibodies in human, mouse, rat for MED25

    MED25 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for MED25
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for MED25
    Cloud-Clone Corp. CLIAs for MED25
    Search eBioscience for ELISAs for MED25 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR021406 Mediator_Med25_NR-box
     IPR021397 Mediator_Med25_SD1
     IPR021419 Mediator_Med25_VWA
     IPR021394 Mediator_Med25

    Graphical View of Domain Structure for InterPro Entry Q71SY5

    ProtoNet protein and cluster: Q71SY5

    UniProtKB/Swiss-Prot: MED25_HUMAN, Q71SY5
    Similarity: Belongs to the Mediator complex subunit 25 family


    Find genes that share domains with MED25           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MED25_HUMAN, Q71SY5
    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. Required for
    RARA/RXRA-mediated transcription

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI17641689
    GO:0008134transcription factor binding IPI17641689
    GO:0042974retinoic acid receptor binding IPI17641689
    GO:0046965retinoid X receptor binding IPI17641689
         
    Find genes that share ontologies with MED25           About GenesLikeMe


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MED25
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MED25

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MED25
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MED25

    miRNA
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    miRTarBase miRNAs that target MED25:
    hsa-mir-324-3p (MIRT043009), hsa-let-7b-5p (MIRT052170), hsa-mir-21-3p (MIRT038966)

    Block miRNA regulation of human, mouse, rat MED25 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate MED25
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    Predesigned siRNA for gene silencing in human, mouse, rat MED25

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    OriGene ORF clones in mouse, rat for MED25
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    GenScript: all cDNA clones in your preferred vector: MED25 (NM_030973)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MED25
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MED25

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MED25


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MED25_HUMAN, Q71SY5: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005654nucleoplasm TAS--

    Find genes that share ontologies with MED25           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for MED25 About    
    See pathways by source

    SuperPathContained pathways About
    1Fatty acid, triacylglycerol, and ketone body metabolism
    Fatty acid, triacylglycerol, and ketone body metabolism0.65
    PPARA Activates Gene Expression0.63
    Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)0.65
    Transcriptional Regulation of White Adipocyte Differentiation0.38
    2Gene Expression
    Generic Transcription Pathway0.40
    Gene Expression0.40
    3Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    4L1CAM interactions
    Developmental Biology0.63


    Find genes that share SuperPaths with MED25           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 Reactome Pathways for MED25
        Transcriptional regulation of white adipocyte differentiation
    Generic Transcription Pathway
    PPARA activates gene expression


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MED25
    Interactions:

        Search GeneGlobe Interaction Network for MED25

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for MED25 (Q71SY51, 2, 3 ENSP000003267674) via UniProtKB, MINT, STRING, and/or I2D (see all 87)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RARAP102761, 2, 3, ENSP000002540664EBI-394558,EBI-413374 MINT-5210199 MINT-5210070 MINT-5210046 MINT-5209882 MINT-5210176 MINT-5209983 MINT-5210334 MINT-5209938 MINT-5210212 MINT-5210090 I2D: score=4 STRING: ENSP00000254066
    NR3C1P041502, 3, ENSP000002315094MINT-5210024 I2D: score=2 STRING: ENSP00000231509
    ABL1P005192, 3, ENSP000003614234MINT-7217845 I2D: score=1 STRING: ENSP00000361423
    LCKP062392, 3, ENSP000003378254MINT-7217863 I2D: score=1 STRING: ENSP00000337825
    RXRAP197931, 2, 3, ENSP000004196924EBI-394558,EBI-78598 MINT-5210379 MINT-5210002 MINT-5210351 MINT-5210362 I2D: score=4 STRING: ENSP00000419692
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IMP17641689
    GO:0006367transcription initiation from RNA polymerase II promoter TAS--
    GO:0010467gene expression TAS--
    GO:0035563positive regulation of chromatin binding IMP17641689
    GO:0045944positive regulation of transcription from RNA polymerase II promoter IDA17641689

    Find genes that share ontologies with MED25           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MED25



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for MED25 gene: 
    NM_030973.3  

    Unigene Cluster for MED25:

    Mediator complex subunit 25
    Hs.656639  [show with all ESTs]
    Unigene Representative Sequence: AK055844
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000593595 ENST00000593636 ENST00000312865(uc010enl.2 uc002ppw.2 uc010ybe.2 uc002ppx.1)
    ENST00000595185 ENST00000538643 ENST00000599722 ENST00000594998 ENST00000593767

    miRNA
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    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for MED25
    Predesigned siRNA for gene silencing in human, mouse, rat MED25
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    GenScript: all cDNA clones in your preferred vector: MED25 (NM_030973)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MED25
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MED25
    Primer
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    OriGene qPCR primer pairs and template standards for MED25
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MED25
      QuantiTect SYBR Green Assays in human, mouse, rat MED25
      QuantiFast Probe-based Assays in human, mouse, rat MED25

    Additional mRNA sequence: 

    AF261072.1 AJ617479.1 AK055844.1 AK289460.1 AK298897.1 AL136746.1 AY533507.1 BC021543.1 
    BC024312.2 BC065297.1 EU392499.1 EU392500.1 EU392501.1 EU392502.1 EU392503.1 EU392504.1 
    EU392505.1 EU392506.1 EU392507.1 EU392508.1 EU392509.1 EU392510.1 EU392511.1 EU392512.1 
    EU392513.1 EU392514.1 EU392515.1 EU392516.1 EU392517.1 EU392519.1 

    13 DOTS entries:

    DT.40250284  DT.40296253  DT.91843061  DT.100024478  DT.100772812  DT.95220704  DT.121445351  DT.91968960 
    DT.100772814  DT.121445335  DT.91693970  DT.91727147  DT.100772815 

    Selected AceView cDNA sequences (see all 594):

    BU839663 BM931312 AW183654 BU527471 AI866684 AI352416 AI249713 BC065486 
    AI432624 AL536403 BF725385 AA809690 BP429456 CR623304 AK057817 AW304342 
    AI702036 BU185109 AJ617479 AI371847 BE326831 AI830917 AJ617480 BU731573 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for MED25 (see all 6)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17
    SP1:                                                                                                                              
    SP2:                    -                                                                                                         
    SP3:                                                                                                                    -         
    SP4:                                                                                                                              
    SP5:                                                                                                  -                           


    ECgene alternative splicing isoforms for MED25

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MED25 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GATCTCATCT
    MED25 Expression
    About this image

    MED25 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MED25 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.656639

    UniProtKB/Swiss-Prot: MED25_HUMAN, Q71SY5
    Tissue specificity: Ubiquitously expressed. Highest levels in brain, heart, kidney, peripheral leukocytes,
    placenta, skeletal muscle and spleen

        Custom PCR Arrays for MED25
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    QuantiFast Probe-based Assays in human, mouse, rat MED25
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MED25

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for MED25 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Med251 , 5 mediator of RNA polymerase II transcription, subunit more5
    mediator complex subunit 251
    85.41(n)1
    91.54(a)1
      7 (28.95 cM)5
    756131  NM_029365.21  NP_083641.11 
     448793865 
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.44002 Xenopus laevis transcribed sequence with moderate similarity more 78.71(n)    CD253032.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.250872 Danio rerio cDNA clone MGC63555 IMAGE3817335, complete more 76.78(n)    BC058057.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta MED256
    Mediator complex subunit 25
    23(a)
    1 → many
    3R(15834718-15837434)


    ENSEMBL Gene Tree for MED25 (if available)
    TreeFam Gene Tree for MED25 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MED25 gene
    PTOV12  
    2 SIMAP similar genes for MED25 using alignment to 22 protein entries:     MED25_HUMAN (see all proteins):
    PTOV1    FP3184

    Find genes that share paralogs with MED25           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MED25 (see all 562)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1457700661,2,,4
    C,FCharcot-Marie-Tooth disease 2B2 (CMT2B2)4 pathogenic150511006(+) TGGCGC/TCCCCA 2 A V mis12Minor allele frequency- T:0.00NA EU 4121
    rs348383551,2
    C--46701931(+) TGCCT-/TGTAAT 1 -- int12Minor allele frequency- T:0.25NA CSA 4
    rs113613161,2
    C--50322620(+) GGCTTG/-GGGTG 1 -- int12Minor allele frequency- -:0.25NA CSA 4
    rs1117658811,2
    F--50326234(+) AGGGTC/TTTGCT 1 -- int12Minor allele frequency- T:0.02CSA WA 120
    rs1826225111,2
    --50496533(+) CACCAC/TGACGC 1 -- us2k10--------
    rs1431461461,2
    C--50496572(+) GCCTCC/TACCTC 1 -- us2k10--------
    rs1872151621,2
    --50496644(+) ATTTAC/TTGGCC 1 -- us2k10--------
    rs774981191,2
    C,F--50496689(+) AGTCAG/AGTTTC 1 -- us2k12Minor allele frequency- A:0.03WA EA 238
    rs1919672011,2
    --50496708(+) TATTTA/CTTTTT 1 -- us2k10--------
    rs1836759231,2
    --50496775(+) TCTCAA/GTTGAC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for MED25 (50321536 - 50342073 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for MED25:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2659864CNV Deletion23128226
    nsv912269CNV Loss21882294
    nsv912272CNV Loss21882294
    dgv53n68CNV Loss17160897
    nsv470150CNV Gain18288195
    nsv9739CNV Gain+Loss18304495

    Human Gene Mutation Database (HGMD): MED25
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MED25
    DNA2.0 Custom Variant and Variant Library Synthesis for MED25

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 610197   
    OMIM disorders: 605589  
    UniProtKB/Swiss-Prot: MED25_HUMAN, Q71SY5
  • Charcot-Marie-Tooth disease 2B2 (CMT2B2) [MIM:605589]: A recessive axonal form of Charcot-Marie-Tooth
    disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy,
    initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is
    classified in two main groups on the basis of electrophysiologic properties and histopathology: primary
    peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral
    axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in
    the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and
    progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 5 diseases for MED25:    
    About MalaCards
    charcot-marie-tooth disease type 2b2    charcot-marie-tooth neuropathy type 2b2    charcot-marie-tooth neuropathy type 2    charcot-marie-tooth disease type 2
    charcot-marie-tooth disease


    Find genes that share disorders with MED25           About GenesLikeMe


    Export disorders for MED25 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for MED25 gene, integrated from 10 sources (see all 48):
    (articles sorted by number of sources associating them with MED25)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2, 3 Wiemann S.... Poustka A. (Genome Res. 2001)
    2. Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models. (PubMed id 19290556)1, 2, 9 Leal A.... Rautenstrauss B. (Neurogenetics 2009)
    3. A prostate-derived cDNA that is mapped to human chromosome 19 encodes a novel protein. (PubMed id 12163014)1, 2, 9 Wang C.... Steiner M.S. (Biochem. Biophys. Res. Commun. 2002)
    4. NMR structure of the human Mediator MED25 ACID domain. (PubMed id 20974256)1, 2 Bontems F.... Monte D. (J. Struct. Biol. 2011)
    5. MED25 is distinct from TRAP220/MED1 in cooperating with CBP for retinoid receptor activation. (PubMed id 17641689)1, 2 Lee H.-K.... Um S.-J. (EMBO J. 2007)
    6. MED1/TRAP220 exists predominantly in a TRAP/Mediator subpopulation enriched in RNA polymerase II and is required for ER-mediated transcription. (PubMed id 15989967)1, 2 Zhang X....Roeder R.G. (Mol. Cell 2005)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. The activator-recruited cofactor/Mediator coactivator subunit ARC92 is a functionally important target of the VP16 transcriptional activator. (PubMed id 14983011)1, 2 Yang F.... Naeaer A.M. (Proc. Natl. Acad. Sci. U.S.A. 2004)
    9. A set of consensus mammalian mediator subunits identified by multidimensional protein identification technology. (PubMed id 15175163)1, 2 Sato S.... Conaway R.C. (Mol. Cell 2004)
    10. A novel docking site on Mediator is critical for activation by VP16 in mammalian cells. (PubMed id 14657022)1, 2 Mittler G.... Meisterernst M. (EMBO J. 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 81857 HGNC: 28845 AceView: PTOV1andARC92 Ensembl:ENSG00000104973 euGenes: HUgn81857
    ECgene: MED25 H-InvDB: MED25

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for MED25 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MED25 gene:
    Search GeneIP for patents involving MED25

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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