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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MED12 Gene

protein-coding   GIFtS: 63
GCID: GC0XP070338

mediator complex subunit 12

(Previous names: trinucleotide repeat containing 11 (THR-associated protein,...)
(Previous symbols: TNRC11, FGS1)
 Explore 30 diseases affiliated with
MED12 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for MED12    

Aliases
for MED12 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Mediator Complex Subunit 121 2 3     CAG Repeat Protein 452 3
HOPA1 2 3 5     OPA-Containing Protein2 3
TNRC111 2 3 5     FG Syndrome 11
TRAP2301 2 3 5     Mediator Of RNA Polymerase II Transcription, Subunit 12 Homolog (S. Cerevisiae)1
CAGH451 2 3     Trinucleotide Repeat Containing 11 (THR-Associated Protein, 230kDa Subunit)1
FGS11 2 5     MED12S2
OKS1 2 5     Human Opposite Paired2
KIAA01921 3 5     Mediator Of RNA Polymerase II Transcription Subunit 122
OPA11 2     Mediator Of RNA Polymerase II Transcription, Subunit 12 Homolog2
Activator-Recruited Cofactor 240 KDa Component2 3     Putative Mediator Subunit 122
Thyroid Hormone Receptor-Associated Protein Complex 230 KDa Component2 3     Thyroid Hormone Receptor-Associated Protein, 230 KDa Subunit2
Trinucleotide Repeat-Containing Gene 11 Protein2 3     Trinucleotide Repeat Containing 11 (THR-Associated Protein, 230 KDa Subunit)2
ARC2402 3     Trap2303

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


Summaries
for MED12 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for MED12:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.1  NT_011669.17  
Regulatory elements:
   SABiosciences 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 plasmid: MED12 promoter sequence
   Search SABiosciences Chromatin IP Primers for MED12

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for MED12 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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
Subcellular location: Nucleus (Probable)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q93074

    • MED12 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_005111.2  
    ENSEMBL proteins: 
     ENSP00000363215   ENSP00000363193   ENSP00000399084   ENSP00000414203   ENSP00000408388  
     ENSP00000404373   ENSP00000333125  
    Reactome Protein details: Q93074
    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    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 ProSpec Recombinant Proteins
    Uscn Proteins for MED12

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA17000779
    GO:0005654nucleoplasm TAS--
    GO:0016592mediator complex IDA12037571


    MED12 for ontologies           About GeneDecksing



    MED12 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Cell Signaling Technology (CST) Antibodies for MED12 
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    GenScript Custom Superior Antibodies Services for MED12
    Novus Biologicals MED12 Antibodies
    Search for Antibodies for MED12 at Abcam  
    Uscn Antibodies for MED12
    Search ThermoFisher Antibodies for MED12

    Assay Products for MED12: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for MED12
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    Uscn ELISAs and CLIAs for MED12

    Protein Domains /
    Families
    for MED12 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    MED12 for domains           About GeneDecksing

    3 InterPro domains/families:
     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


    Function
    for MED12 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

    miRNA
    Products:            		 OriGene 3'-UTR Clone: MED12
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MED12
    8/13 QIAGEN miScript miRNA 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 plasmid: MED12 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MED12 (see all 4)
    OriGene shRNA RFP: MED12
    OriGene siRNA: MED12
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MED12

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

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MED12 (see all 2)
    OriGene untagged cDNA clones in CMV expression vector in human, 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
    Search LifeMap BioReagents cell lines for MED12

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MED12

    Gene Ontology (GO): 5/11 molecular function terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001104RNA polymerase II transcription cofactor activity IDA10198638
    GO:0003682chromatin binding IEA--
    GO:0003712transcription cofactor activity IDA12218053
    GO:0003713transcription coactivator activity IDA12037571
    GO:0004872receptor activity IDA12218053


    MED12 for ontologies           About GeneDecksing


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

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


    Pathways & Interactions
    for MED12 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Generic Transcription Pathway
    		Generic Transcription Pathway1.00
    		Gene Expression0.46
    2HIV Infection
    		Transcription_Ligand-Dependent Transcription of Retinoid-Target genes0.28
    		Transcription Ligand-Dependent Transcription of Retinoid-Target genes0.28
    3Transcriptional Regulation of White Adipocyte Differentiation
    		Transcriptional Regulation of White Adipocyte Differentiation1.00
    4Regulation of Wnt-mediated beta catenin signaling and target gene transcription
    		Regulation of Wnt-mediated beta catenin signaling and target gene transcription1.00
    5Chromatin Regulation / Acetylation
    		Chromatin Regulation / Acetylation1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for MED12
        Transcription Ligand-Dependent Transcription of Retinoid-Target genes


    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

    4        Reactome Pathways for MED12
        Developmental Biology
    Transcriptional Regulation of White Adipocyte Differentiation
    Generic Transcription Pathway
    Gene Expression



    MED12 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MED12

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

    5/660 Interacting proteins for MED12 (Q930742, 3 ENSP000003631934) via UniProtKB, MINT, STRING, and/or I2D (see all 660)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    APPP050672, 3, ENSP000002849814MINT-8151905 MINT-8152054 MINT-8151852 MINT-8151975 I2D: score=1 STRING: ENSP00000284981
    APLP1P516932, 3, ENSP000002218914MINT-8151957 MINT-8151872 MINT-8152009 I2D: score=1 STRING: ENSP00000221891
    APLP2Q064812, 3, ENSP000002635744MINT-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): 5/13 biological process terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001843neural tube closure IEA--
    GO:0006367transcription initiation from RNA polymerase II promoter TAS--
    GO:0007507heart development IEA--
    GO:0010467gene expression TAS--
    GO:0019827stem cell maintenance IEA--


    MED12 for ontologies           About GeneDecksing



    Drugs & Compounds
    for MED12 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MED12
    Search CenterWatch for drugs/clinical trials and news about MED12 

    Transcripts
    for MED12 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000374102 ENST00000374080 ENST00000429213 ENST00000430072(uc022byq.1)
    ENST00000471663 ENST00000462984 ENST00000489199 ENST00000460771 ENST00000439750
    ENST00000478889 ENST00000444034 ENST00000333646(uc011mpq.1 uc004dyy.3 uc004dyz.3 uc004dza.3 uc010nla.3)


    miRNA
    Products:             		 OriGene 3'-UTR Clone: MED12
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MED12
    8/13 QIAGEN miScript miRNA 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 plasmid: MED12 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MED12 (see all 4)
    OriGene shRNA RFP: MED12
    OriGene siRNA: MED12
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MED12
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MED12 (see all 2)
    OriGene untagged cDNA clones in CMV expression vector in human, 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)
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    Primer
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    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat MED12
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MED12
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MED12

    Additional cDNA 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 

    24/128 AceView cDNA sequences (see all 128):

    BU846191 BI768012 BU902791 AF071309 BM705083 BM718466 BU543563 CA455192 
    BQ072363 BM662470 AB102668 AW025960 D83783 BM691406 AI696091 AA836566 
    BQ944838 BE046882 BX436755 AL699269 BM663889 BM458763 BM150307 BE936815 

    GeneLoc Exon Structure

    5/30 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

    Expression
    for MED12 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MED12 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ACTCCAATGA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See MED12 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MED12

    SOURCE GeneReport for Unigene cluster: Hs.409226

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

        SABiosciences Expression via Pathway-Focused PCR Array including MED12: 
              Nuclear Receptors & Coregulators in human mouse rat

    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MED12
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat MED12
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MED12
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MED12
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MED12

    Orthologs
    for MED12 gene

    (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)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for MED12 gene from 6/21 species (see all 21)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves MED121 mediator complex subunit 12 76.54(n)
    85.66(a)    		   422210  XM_003641098.1  XP_003641146.1 
    lizard
    (Anolis carolinensis)    		 Reptilia MED126
    		 --
    		 81(a)
    		 1 ↔ 1
    		 GL343599.1(297969-342355)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.60992 Xenopus laevis transcribed sequence with moderate similarity more 76.16(n)    BQ731276.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii med121 mediator of RNA polymerase II transcription, subunit more 71.42(n)
    76.61(a)    		   566632  NM_001039461.1  NP_001034550.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta kto6
    		 kohtalo
    		 31(a)
    		 possible ortholog
    		 3L(19829714-19838044)
    worm
    (Caenorhabditis elegans)    		 Secernentea dpy-221 Protein DPY-22 39.13(n)
    25.27(a)    		   181194  NM_077244.2  NP_509645.1 


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

    Paralogs
    for MED12 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MED12 gene
    MED12L2  
    3 SIMAP similar genes for MED12 using alignment to 6 protein entries:     MED12_HUMAN (see all proteins):
    HOPA    TNRC11    MED12L

    MED12 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for MED12
    PGOHUM00000233454


    Genomic Variants
    for MED12 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/323 NCBI SNPs in MED12 are shown (see all 323)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr X posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs803387581,2
    		Cpathogenic70347217(+) TGAACC/TGGTCC 2 R W mis10--------
    rs803387591,2
    		Cpathogenic70347781(+) CTGCAA/GCGTGG 2 N S mis10--------
    rs1994696691,2
    		Cother70339253(+) AACAAA/C/G/T 
                GTTTC     		4 S R G C mis10--------
    rs1994696721,2
    		Cother70339254(+) ACAAGA/C/G/T 
                TTTCA     		4 D A G V mis10--------
    rs1901489341,2
    		--70336412(+) AGGTCA/GGGAGT 1 -- us2k10--------
    rs346015331,2
    		C,--70337025(+) AGTTAG/TTTCAA 1 -- us2k10--------
    rs1827700251,2
    		--70337127(+) CACGTA/TGGCCA 1 -- us2k10--------
    rs45234301,2
    		C,F,A,H,--70337295(+) GTTTAT/CTGTTA 1 -- us2k1 tfbs36Minor allele frequency- C:0.11NS EA NA 485
    rs125566301,2
    		H--70337298(+) TATTGG/TTATTT 1 -- us2k1 tfbs30--------
    rs24719701,2
    		H--70337553(+) AGAATC/TTTAGT 1 -- us2k14Minor allele frequency- T:0.00NS EA 418

    HapMap Linkage Disequilibrium report for MED12 (70338406 - 70362304 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for MED12
         1 CNV: 7797
    Human Gene Mutation Database (HGMD): MED12

    Locus Specific Mutation Databases (LSDB): MED12

    5/8 SABiosciences Cancer Mutation PCR Assays for MED12 (see all 8):
    Cosmic IdAA Change
    131590p.L36R
    131591p.Q43P
    131597p.G44V
    131594p.G44S
    131596p.G44D
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MED12
    DNA2.0 Custom Variant and Variant Library Synthesis for MED12

    Disorders / Diseases
    for MED12 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    MED12 for disorders           About GeneDecksing

    OMIM gene information: 300188   
    OMIM disorders: 305450  309520  
    UniProtKB/Swiss-Prot: MED12_HUMAN, Q93074
  • Defects in MED12 are the cause of Opitz-Kaveggia syndrome (OKS) [MIM:305450]; also known as FG syndrome type 1
    • (FGS1) or FG syndrome (FGS). OKS is an X-linked disorder characterized by mental retardation, relative macrocephaly,
    hypotonia and constipation
  • Defects in MED12 are the cause of Lujan-Fryns syndrome (LUJFRYS) [MIM:309520]; also known as X-linked mental
    • retardation with marfanoid habitus. Clinically, Lujan-Fryns syndrome can be distinguished from Opitz-Kaveggia syndrome
    by tall stature, hypernasal voice, hyperextensible digits and high nasal root

    20/30 diseases for MED12 (see all 30):    About MalaCards
    lujan fryns syndrome    fg syndrome    fryns syndrome    manic-depressive illness
    spontaneous ocular nystagmus    plantar fasciitis    fg syndrome type 1    imperforate anus
    usher syndrome type 3    thyroiditis    vestibular nystagmus    lujan syndrome
    usher syndrome    intellectual disability    nystagmus    phobia
    turner syndrome    kaposi's sarcoma    fasciitis    hypothyroidism

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

    3 Novoseek 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
    MED12-Related Disorders

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

    Export disorders for MED12 gene to outside databases

    Publications
    for MED12 gene

    (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)
    About This Section

    PubMed articles for MED12 gene, integrated from 9 sources (see all 89):
    (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. (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. (1999)
    3. cDNAs with long CAG trinucleotide repeats from human brain. (PubMed id 9225980)1, 2, 3 Margolis R.L.... Ross C.A. (1997)
    4. The association of a HOPA polymorphism with major depression and phobia. (PubMed id 12216017)1, 4, 9 Philibert R....Cadoret R.J. (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. (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. (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. (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. (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. (2007)
    10. A novel mutation in MED12 causes FG syndrome (Opitz-K aveggia syndrome). (PubMed id 20507344)1, 3 Rump P....Hordijk R. (2011)

    External Searches for MED12 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing MED12 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 9968 HGNC: 11957 AceView: TNRC11 Ensembl:ENSG00000184634 euGenes: HUgn9968
    ECgene: MED12 H-InvDB: MED12

    Other Databases showing MED12 gene

    (According to HUGE)
    About This Section
    HUGE: KIAA0192

    Specialized Databases showing MED12 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for MED12 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MED12

    Intellectual Property
    for MED12 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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



    Products
    for MED12 gene

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    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     
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