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MED12 Gene

protein-coding   GIFtS: 67
GCID: GC0XP070338

Mediator Complex Subunit 12

(Previous names: trinucleotide repeat containing 11 (THR-associated protein,...)
(Previous symbols: TNRC11, FGS1)
  See 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 121 2 3     KIAA01923 5
TNRC111 2 3 5     FG Syndrome 11
FGS11 2 5     Mediator Of RNA Polymerase II Transcription, Subunit 12 Homolog (S.
Cerevisiae)1
HOPA2 3 5     Trinucleotide Repeat Containing 11 (THR-Associated Protein, 230kDa
Subunit)1
TRAP2302 3 5     MED12S2
Activator-Recruited Cofactor 240 KDa Component2 3     OPA12
Thyroid Hormone Receptor-Associated Protein Complex 230 KDa Component2 3     Human Opposite Paired2
Trinucleotide Repeat-Containing Gene 11 Protein2 3     Mediator Of RNA Polymerase II Transcription Subunit 122
ARC2402 3     Mediator Of RNA Polymerase II Transcription, Subunit 12 Homolog2
CAGH452 3     Putative Mediator Subunit 122
CAG Repeat Protein 452 3     Thyroid Hormone Receptor-Associated Protein, 230 KDa Subunit2
OPA-Containing Protein2 3     Trinucleotide Repeat Containing 11 (THR-Associated Protein, 230 KDa
Subunit)2
OHDOX2 5     Trap2303
OKS2 5     

External Ids:    HGNC: 119571   Entrez Gene: 99682   Ensembl: ENSG000001846347   OMIM: 3001885   UniProtKB: Q930743   

Export aliases for MED12 gene to outside databases

Previous GC identifers: GC0XP070122 GC0XP070256 GC0XP064157


(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 MED12 Gene:
The initiation of transcription is controlled in part by a large protein assembly known as the preinitiation
complex. A component of this preinitiation complex is a 1.2 MDa protein aggregate called Mediator. This Mediator
component binds with a CDK8 subcomplex which contains the protein encoded by this gene, mediator complex subunit
12 (MED12), along with MED13, CDK8 kinase, and cyclin C. The CDK8 subcomplex modulates Mediator-polymerase II
interactions and thereby regulates transcription initiation and reinitation rates. The MED12 protein is essential
for activating CDK8 kinase. Defects in this gene cause X-linked Opitz-Kaveggia syndrome, also known as FG
syndrome, and Lujan-Fryns syndrome. (provided by RefSeq, Aug 2009)

GeneCards Summary for MED12 Gene:
MED12 (mediator complex subunit 12) is a protein-coding gene. Diseases associated with MED12 include lujan fryns syndrome, and fg syndrome type 1. GO annotations related to this gene include chromatin binding and receptor activity. An important paralog of this gene is MED12L.

UniProtKB/Swiss-Prot: MED12_HUMAN, Q93074
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. This subunit may specifically
regulate transcription of targets of the Wnt signaling pathway and SHH signaling pathway

Gene Wiki entry for MED12 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:
NC_000023.11  NT_011651.18  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MED12 gene promoter:
         GR   NRSF form 1   GR-beta   FOXO3   Nkx2-5   NRSF form 2   Evi-1   HOXA5   IRF-7A   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMED12 promoter sequence
   Search Chromatin IP Primers for MED12

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MED12


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

Entrez Gene cytogenetic band: Xq13   Ensembl cytogenetic band:  Xq13.1   HGNC cytogenetic band: Xq13

MED12 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MED12 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP070338:  view genomic region     (about GC identifiers)

Start:
70,338,406 bp from pter      End:
70,362,304 bp from pter
Size:
23,899 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: MED12_HUMAN, Q93074 (See protein sequence)
Recommended Name: Mediator of RNA polymerase II transcription subunit 12  
Size: 2177 amino acids; 243081 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. Also interacts with CTNNB1
and GLI3
Sequence caution: Sequence=AAD22033.1; Type=Erroneous initiation;
Secondary accessions: O15410 O75557 Q9UHV6 Q9UND7
Alternative splicing: 3 isoforms:  Q93074-1   Q93074-2   Q93074-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MED12: NX_Q93074

Explore proteomics data for MED12 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys80, Lys443, Lys762, Lys780, Lys785, Lys814, Lys1001, Lys1194, Lys1298, Lys1434,
                                 Lys1664, Lys1674
  • Modification sites at PhosphoSitePlus

  • See MED12 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005111.2  
    ENSEMBL proteins: 
     ENSP00000363215   ENSP00000363193   ENSP00000399084   ENSP00000404373   ENSP00000333125  
    Reactome Protein details: Q93074

    MED12 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for MED12
    GenScript Custom Purified and Recombinant Proteins Services for MED12
    Novus Biologicals MED12 Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MED12

    MED12 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Cell Signaling Technology (CST) Antibodies for MED12 
    OriGene Antibodies for MED12
    OriGene Custom Antibody Services for MED12
    Novus Biologicals MED12 Antibodies
    Abcam antibodies for MED12
    Cloud-Clone Corp. Antibodies for MED12
    Search ThermoFisher Antibodies for MED12
    LSBio Antibodies in human, mouse, rat for MED12

    MED12 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for MED12
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for MED12
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for MED12
    Cloud-Clone Corp. CLIAs for MED12


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR021989 Mediator_Med12_catenin-bd
     IPR019035 Mediator_Med12
     IPR021990 Mediator_Med12_LCEWAV

    Graphical View of Domain Structure for InterPro Entry Q93074

    ProtoNet protein and cluster: Q93074

    UniProtKB/Swiss-Prot: MED12_HUMAN, Q93074
    Similarity: Belongs to the Mediator complex subunit 12 family


    MED12 for domains           About GeneDecksing


    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MED12_HUMAN, Q93074
    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. This subunit may specifically
    regulate transcription of targets of the Wnt signaling pathway and SHH signaling pathway

         Gene Ontology (GO): Selected molecular function terms (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000980RNA polymerase II distal enhancer sequence-specific DNA binding IEA--
    GO:0001104RNA polymerase II transcription cofactor activity IDA10198638
    GO:0001190RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription IEA--
    GO:0003682chromatin binding IEA--
    GO:0003712transcription cofactor activity IDA12218053
         
    MED12 for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for MED12:
     Decreased NANOG protein expres  Decreased OCT4 protein express  Decreased POU5F1-GFP protein e  Increased G1 DNA content 

         9 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Med12):
     cardiovascular system  cellular  craniofacial  embryogenesis  limbs/digits/tail 
     mortality/aging  nervous system  normal  skeleton 

    MED12 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Med12tm1.2Hsch for MED12

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MED12
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MED12

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MED12
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MED12

    miRNA
    Products:
        
    miRTarBase miRNAs that target MED12:
    hsa-mir-10a-5p (MIRT047700), hsa-mir-17-5p (MIRT050915), hsa-mir-16-5p (MIRT051310), hsa-mir-99a-5p (MIRT048665), hsa-mir-320a (MIRT044626), hsa-mir-454-3p (MIRT039241), hsa-mir-196a-5p (MIRT048228), hsa-mir-100-5p (MIRT048529), hsa-mir-31-5p (MIRT049860)

    Block miRNA regulation of human, mouse, rat MED12 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MED12 (see all 13):
    hsa-miR-495 hsa-miR-548d-3p hsa-miR-548am hsa-miR-7-2* hsa-miR-544b hsa-miR-7-1* hsa-miR-518a-5p hsa-miR-3151
    SwitchGear 3'UTR luciferase reporter plasmidMED12 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for MED12
    Predesigned siRNA for gene silencing in human, mouse, rat MED12

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for MED12

    Clone
    Products:
         
    OriGene clones in human, mouse for MED12 (see all 5)
    OriGene ORF clones in mouse, rat for MED12
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MED12 (NM_005120)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MED12
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MED12

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for MED12
    Browse ESI BIO Cell Lines and PureStem Progenitors for MED12 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MED12


    (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
    MED12_HUMAN, Q93074: Nucleus (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    plasma membrane3
    cytosol1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA10235267
    GO:0005654nucleoplasm TAS--
    GO:0016592mediator complex IDA10198638

    MED12 for ontologies           About GeneDecksing


    (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 MED12 About   (see all 8)  
    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
    5Transcription Ligand Dependent Transcription of Retinoid Target genes
    Transcription Ligand Dependent Transcription of Retinoid Target genes

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for MED12
        Chromatin Regulation / Acetylation

    1 GeneGo (Thomson Reuters) Pathway for MED12
        Transcription Ligand-Dependent Transcription of Retinoid-Target genes

    1 BioSystems Pathway for MED12
        Regulation of Wnt-mediated beta catenin signaling and target gene transcription

    3 Reactome Pathways for MED12
        Transcriptional regulation of white adipocyte differentiation
    Generic Transcription Pathway
    PPARA activates gene expression


    1 Kegg Pathway  (Kegg details for MED12):
        Thyroid hormone signaling pathway


    MED12 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including MED12: 
              Nuclear Receptors & Coregulators in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for MED12

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

    Selected Interacting proteins for MED12 (Q930741, 2, 3 ENSP000003631934) via UniProtKB, MINT, STRING, and/or I2D (see all 699)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    APPP050671, 2, 3, ENSP000002849814EBI-394357,EBI-77613 MINT-8151905 MINT-8152054 MINT-8151852 MINT-8151975 I2D: score=1 STRING: ENSP00000284981
    APLP1P516931, 2, 3, ENSP000002218914EBI-394357,EBI-74648 MINT-8151957 MINT-8151872 MINT-8152009 I2D: score=1 STRING: ENSP00000221891
    APLP2Q064811, 2, 3, ENSP000002635744EBI-394357,EBI-79306 MINT-8151992 MINT-8152076 MINT-8151888 I2D: score=1 STRING: ENSP00000263574
    MED13Q9UHV72, 3, ENSP000003808884MINT-6744331 MINT-7010915 I2D: score=3 STRING: ENSP00000380888
    MED16Q9Y2X02, 3, ENSP000003256124MINT-6744331 MINT-7947479 I2D: score=1 STRING: ENSP00000325612
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001843neural tube closure IEA--
    GO:0006357regulation of transcription from RNA polymerase II promoter ----
    GO:0006367transcription initiation from RNA polymerase II promoter TAS--
    GO:0007507heart development IEA--
    GO:0010467gene expression TAS--

    MED12 for ontologies           About GeneDecksing



    (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 MED12



    (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,
    Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for MED12 gene: 
    NM_005120.2  

    Unigene Cluster for MED12:

    Mediator complex subunit 12
    Hs.409226  [show with all ESTs]
    Unigene Representative Sequence: NM_005120
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000374102 ENST00000374080 ENST00000429213 ENST00000471663 ENST00000462984
    ENST00000489199 ENST00000460771 ENST00000444034 ENST00000333646(uc011mpq.1 uc004dyy.3 uc004dyz.3 uc004dza.3 uc010nla.3)

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat MED12 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MED12 (see all 13):
    hsa-miR-495 hsa-miR-548d-3p hsa-miR-548am hsa-miR-7-2* hsa-miR-544b hsa-miR-7-1* hsa-miR-518a-5p hsa-miR-3151
    SwitchGear 3'UTR luciferase reporter plasmidMED12 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for MED12
    Predesigned siRNA for gene silencing in human, mouse, rat MED12
    Clone
    Products:
         
    OriGene clones in human, mouse for MED12 (see all 5)
    OriGene ORF clones in mouse, rat for MED12
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MED12 (NM_005120)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MED12
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MED12
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for MED12
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MED12
      QuantiTect SYBR Green Assays in human, mouse, rat MED12
      QuantiFast Probe-based Assays in human, mouse, rat MED12

    Additional mRNA sequence: 

    AF071309.1 AJ306428.1 AK302543.1 D83783.1 FN430679.1 U23863.1 U80742.1 

    16 DOTS entries:

    DT.97834156  DT.414845  DT.95069025  DT.95218104  DT.91768743  DT.92426724  DT.95081895  DT.121315653 
    DT.40196003  DT.86844263  DT.91689045  DT.92051860  DT.97834249  DT.99929719  DT.121315674  DT.86858519 

    Selected AceView cDNA sequences (see all 128):

    BE046882 BE936815 BQ010237 BI768012 AB102668 BM663889 AF071309 AL699269 
    BM705083 BU846191 BQ072363 BM458763 BM691406 CA455192 D83783 BM150307 
    BM718466 BX436755 AW965555 AJ306428 AI696091 BU543563 BU902791 AA836566 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for MED12 (see all 30)    About this scheme

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

    ExUns: 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22 ^ 23a · 23b ^ 24a · 24b · 24c ^ 25a · 25b ^ 26a · 26b ^ 27a · 27b ^ 28a · 28b · 28c ^ 29a · 29b ^ 30a · 30b ^ 31a · 31b ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                            -     -                                                         
    SP5:                                                                                            -     -                                                         

    ExUns: 32 ^ 33a · 33b ^ 34 ^ 35a · 35b ^ 36 ^ 37 ^ 38 ^ 39 ^ 40a · 40b ^ 41 ^ 42 ^ 43a · 43b · 43c · 43d ^ 44 ^ 45 ^ 46a · 46b ^ 47 ^ 48 ^ 49 ^ 50
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            


    ECgene alternative splicing isoforms for MED12

    (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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    MED12 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACTCCAATGA
    MED12 Expression
    About this image


    MED12 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Brain (Nervous System)    fully expand to see all 17 entries
             Thalamus
             Septum   
    MED12 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MED12 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.409226

    UniProtKB/Swiss-Prot: MED12_HUMAN, Q93074
    Tissue specificity: Ubiquitous

        Pathway & Disease-focused RT2 Profiler PCR Array including MED12: 
              Nuclear Receptors & Coregulators in human mouse rat

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MED12

    (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 MED12 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Med121 , 5 mediator of RNA polymerase II transcription, subunit 12 homolog (yeast) less5
    mediator complex subunit 121
    91.04(n)1
    97.07(a)1
      X (43.91 cM)5
    590241  NM_021521.21  NP_067496.21 
     1012740305 
    chicken
    (Gallus gallus)
    Aves MED121 mediator complex subunit 12 76.12(n)
    85.07(a)
      422210  XM_004940634.1  XP_004940691.1 
    lizard
    (Anolis carolinensis)
    Reptilia MED126
    mediator complex subunit 12
    80(a)
    1 ↔ 1
    GL343599.1(295963-342355)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.60992 Xenopus laevis transcribed sequence with moderate similarity to protein refNP_005111.1 (H.sapiens) trinucleotide repeat containing 11 (THR-associated protein, 230 kD subunit); trinucleotide repeat containing 11 (THR-associated protein, 230 kDa subunit); less 76.16(n)    BQ731276.1 
    zebrafish
    (Danio rerio)
    Actinopterygii med121 mediator of RNA polymerase II transcription, subunit 12 homolog less 71.17(n)
    76.76(a)
      566632  NM_001039461.1  NP_001034550.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta kto6
    kohtalo
    33(a)
    1 → many
    3L(19829714-19838044)
    worm
    (Caenorhabditis elegans)
    Secernentea dpy-226
    Protein DPY-22 (dpy-22) mRNA, complete cds
    11(a)
    1 → many
    X(9810231-9822273) WBGene00001081


    ENSEMBL Gene Tree for MED12 (if available)
    TreeFam Gene Tree for MED12 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MED12 gene
    MED12L2  
    3 SIMAP similar genes for MED12 using alignment to 4 protein entries:     MED12_HUMAN (see all proteins):
    HOPA    TNRC11    MED12L

    MED12 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for MED12
    PGOHUM00000233454


    (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 MED12 (see all 509)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0375344
    Lujan-Fryns syndrome (LUJFRYS)4--see VAR_0375342 N S mis40--------
    VAR_0697704
    Ohdo syndrome, X-linked (OHDOX)4--see VAR_0697702 R H mis40--------
    VAR_0697724
    Ohdo syndrome, X-linked (OHDOX)4--see VAR_0697722 H N mis40--------
    VAR_0697714
    Ohdo syndrome, X-linked (OHDOX)4--see VAR_0697712 S P mis40--------
    VAR_0331124
    Opitz-Kaveggia syndrome (OKS)4--see VAR_0331122 R W mis40--------
    rs803387581,2
    Cpathogenic170355150(+) TGAACC/TGGTCC 2 R W mis10--------
    rs803387591,2
    Cpathogenic170355714(+) CTGCAA/GCGTGG 2 N S mis10--------
    rs1994696691,2
    Cuntested170347185(+) AACAAA/C/G/
            
    GTTTC
    4 S R G C mis10--------
    rs1994696721,2
    Cuntested170347186(+) ACAAGA/C/G/
            
    TTTCA
    4 D A G V mis10--------
    rs720418211,2
    C--70337843(+) ATGCA-/TATTATTA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for MED12 (70338406 - 70362304 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for MED12:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv33082CNV Loss17666407
    esv1584074OTHER Inversion17803354

    Human Gene Mutation Database (HGMD): MED12
    Locus Specific Mutation Databases (LSDB): MED12

    Selected Site Specific Mutation Identification with PCR Assays for MED12 (see all 8):
    Cosmic IdAA Change
    131590p.L36R
    131591p.Q43P
    131597p.G44V
    131594p.G44S
    131596p.G44D
    SeqTarget long-range PCR primers for resequencing MED12
    DNA2.0 Custom Variant and Variant Library Synthesis for MED12

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300188   
    OMIM disorders: 305450  309520  300895  
    UniProtKB/Swiss-Prot: MED12_HUMAN, Q93074
  • Opitz-Kaveggia syndrome (OKS) [MIM:305450]: X-linked disorder characterized by mental retardation,
    relative macrocephaly, hypotonia and constipation. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Lujan-Fryns syndrome (LUJFRYS) [MIM:309520]: Clinically, Lujan-Fryns syndrome can be distinguished from
    Opitz-Kaveggia syndrome by tall stature, hypernasal voice, hyperextensible digits and high nasal root. Note=The
    disease is caused by mutations affecting the gene represented in this entry
  • Ohdo syndrome, X-linked (OHDOX) [MIM:300895]: A syndrome characterized by mental retardation, feeding
    problems, and distinctive facial appearance with coarse facial features, severe blepharophimosis, ptosis, a
    bulbous nose, micrognathia and a small mouth. Dental hypoplasia and deafness can be considered as common
    manifestations of the syndrome. Male patients show cryptorchidism and scrotal hypoplasia. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • Selected diseases for MED12 (see all 43):    
    About MalaCards
    lujan fryns syndrome    fg syndrome type 1    med12-related disorders    lujan syndrome
    ohdo syndrome, maat-kievit-brunner type    fg syndrome    fryns syndrome    plantar fasciitis
    lip cancer    spontaneous ocular nystagmus    vestibular nystagmus    fasciitis
    usher syndrome type 3    imperforate anus    mental retardation, x-linked 17/31, microduplication    was-related disorders
    uterine fibroid    usher syndrome    blepharophimosis    smooth muscle tumor

    5 diseases from the University of Copenhagen DISEASES database for MED12:
    FG syndrome     Spontaneous ocular nystagmus     Intellectual disability     Vestibular nystagmus
    Leiomyoma

    MED12 for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for MED12 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hypothyroidism 70.2 11 10898921 (3), 12216017 (2), 11424983 (1), 20218787 (1) (see all 5)
    mental retardation 68 6 12860370 (3), 10480376 (1), 20218787 (1), 10898921 (1)
    schizophrenia 50.4 9 12860370 (3), 10898921 (2), 11424983 (1), 20218787 (1) (see all 5)

    GeneTests: MED12
    GeneReviews: MED12
    Genetic Association Database (GAD): MED12
    Human Genome Epidemiology (HuGE) Navigator: MED12 (8 documents)

    Export disorders for MED12 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 MED12 gene, integrated from 10 sources (see all 108):
    (articles sorted by number of sources associating them with MED12)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. (PubMed id 17334363)1, 2, 3 Risheg H.... Friez M.J. (Nat. Genet. 2007)
    2. Identity between TRAP and SMCC complexes indicates novel pathways for the function of nuclear receptors and diverse mammalian activators. (PubMed id 10198638)1, 2, 3 Ito M.... Roeder R.G. (Mol. Cell 1999)
    3. cDNAs with long CAG trinucleotide repeats from human brain. (PubMed id 9225980)1, 2, 3 Margolis R.L.... Ross C.A. (Hum. Genet. 1997)
    4. The association of a HOPA polymorphism with major depression and phobia. (PubMed id 12216017)1, 4, 9 Philibert R....Cadoret R.J. (Compr Psychiatry 2002)
    5. No association of a dodecamer duplication in the human opposite paired (HOPA) gene with mental retardation and schizophrenia in Chinese patients from Taiwan. (PubMed id 12860370)1, 4, 9 Hung C.C....Chen C.H. (Psychiatry Res 2003)
    6. The genomic structure and developmental expression patterns of the human OPA-containing gene (HOPA). (PubMed id 10480376)1, 2, 9 Philibert R.A.... Ginns E.I. (Hum. Genet. 1999)
    7. Association studies of the HOPA dodecamer duplication variant in different subtypes of autism. (PubMed id 11840515)1, 4, 9 Beyer K.S....Poustka A. (Am. J. Med. Genet. 2002)
    8. Population-based association analyses of the HOPA12bp polymorphism for schizophrenia and hypothyroidism. (PubMed id 11424983)1, 4, 9 Philibert R.A....Wassink T.H. (Am. J. Med. Genet. 2001)
    9. The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene. (PubMed id 17369503)1, 2, 9 Schwartz C.E.... Stevenson R.E. (J. Med. Genet. 2007)
    10. Mutations in MED12 cause X-linked Ohdo syndrome. (PubMed id 23395478)1, 2 Vulto-van Silfhout A.T....de Brouwer A.P. (Am. J. Hum. Genet. 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 9968 HGNC: 11957 AceView: TNRC11 Ensembl:ENSG00000184634 euGenes: HUgn9968
    ECgene: MED12 Kegg: 9968 H-InvDB: MED12

    (According to HUGE)
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    HUGE: KIAA0192

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for MED12 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=MED12[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MED12 gene:
    Search GeneIP for patents involving MED12

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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