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    MED12 mediator complex subunit 12 [ Homo sapiens (human) ]

    Gene ID: 9968, updated on 20-Apr-2017
    Official Symbol
    MED12provided by HGNC
    Official Full Name
    mediator complex subunit 12provided by HGNC
    Primary source
    HGNC:HGNC:11957
    See related
    Ensembl:ENSG00000184634 MIM:300188; Vega:OTTHUMG00000021788
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    OKS; FGS1; HOPA; OPA1; OHDOX; ARC240; CAGH45; MED12S; TNRC11; TRAP230
    Summary
    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]
    Orthologs
    Location:
    Xq13.1
    Exon count:
    45
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) X NC_000023.11 (71118556..71142454)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (70338406..70362304)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene chromosome X open reading frame 65 Neighboring gene interleukin 2 receptor subunit gamma Neighboring gene neuroligin 3 Neighboring gene uncharacterized LOC107985688

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    FG syndrome
    MedGen: C0220769 OMIM: 305450 GeneReviews: MED12-Related Disorders
    Compare labs
    Ohdo syndrome, X-linked
    MedGen: C3698541 OMIM: 300895 GeneReviews: Not available
    Compare labs
    X-linked mental retardation with marfanoid habitus syndrome
    MedGen: C0796022 OMIM: 309520 GeneReviews: MED12-Related Disorders
    Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated (2012-07-25)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated (2012-07-25)

    ClinGen Genome Curation Page
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • KIAA0192

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA polymerase II distal enhancer sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    RNA polymerase II transcription coactivator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    RNA polymerase II transcription cofactor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    beta-catenin binding IEA
    Inferred from Electronic Annotation
    more info
     
    chromatin binding IEA
    Inferred from Electronic Annotation
    more info
     
    ligand-dependent nuclear receptor transcription coactivator activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    protein C-terminus binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein domain specific binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    thyroid hormone receptor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription coactivator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription cofactor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ubiquitin protein ligase activity IEA
    Inferred from Electronic Annotation
    more info
     
    vitamin D receptor binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    Schwann cell development IEA
    Inferred from Electronic Annotation
    more info
     
    Wnt signaling pathway, planar cell polarity pathway IEA
    Inferred from Electronic Annotation
    more info
     
    androgen receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    axis elongation involved in somitogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    canonical Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic brain development IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic neurocranium morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    endoderm development IEA
    Inferred from Electronic Annotation
    more info
     
    heart development IEA
    Inferred from Electronic Annotation
    more info
     
    intracellular steroid hormone receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of Wnt signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    neural tube closure IEA
    Inferred from Electronic Annotation
    more info
     
    oligodendrocyte development IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    post-anal tail morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
     
    spinal cord development IEA
    Inferred from Electronic Annotation
    more info
     
    stem cell population maintenance IEA
    Inferred from Electronic Annotation
    more info
     
    transcription initiation from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription initiation from RNA polymerase II promoter TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    mediator complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ubiquitin ligase complex IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    mediator of RNA polymerase II transcription subunit 12
    Names
    CAG repeat protein 45
    OPA-containing protein
    activator-recruited cofactor 240 kDa component
    human opposite paired
    mediator of RNA polymerase II transcription, subunit 12 homolog
    putative mediator subunit 12
    thyroid hormone receptor-associated protein complex 230 kDa component
    thyroid hormone receptor-associated protein, 230 kDa subunit
    trinucleotide repeat containing 11 (THR-associated protein, 230 kDa subunit)
    trinucleotide repeat-containing gene 11 protein

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012808.1 RefSeqGene

      Range
      5001..28899
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005120.2NP_005111.2  mediator of RNA polymerase II transcription subunit 12

      See identical proteins and their annotated locations for NP_005111.2

      Status: REVIEWED

      Source sequence(s)
      AF071309, AF117755, BM662470, DB069668
      Consensus CDS
      CCDS43970.1
      UniProtKB/Swiss-Prot
      Q93074
      Related
      ENSP00000363193.3, OTTHUMP00000023491, ENST00000374080.7, OTTHUMT00000057105
      Conserved Domains (3) summary
      pfam09497
      Location:103161
      Med12; Transcription mediator complex subunit Med12
      pfam12144
      Location:18202019
      Med12-PQL; Eukaryotic Mediator 12 catenin-binding domain
      pfam12145
      Location:286757
      Med12-LCEWAV; Eukaryotic Mediator 12 subunit domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p7 Primary Assembly

      Range
      71118556..71142454
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

      Range
      70231161..70255024
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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