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MED12 mediator complex subunit 12

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]

Copy number response

Description
Copy number response
Haploinsufficency

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

ISCA Genome Curation Page
Triplosensitivity

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

ISCA Genome Curation Page

Genomic context

Location:
Xq13
Sequence:
Chromosome: X; NC_000023.11 (71118556..71142454)
Total number of exons:
45

Links

  • BioSystems
    BioSystems
  • ClinVar
    Related medical variations
  • dbVar
    Link from Gene to dbVar
  • MED12 @ LOVD
  • MedGen
    Related information in MedGen
  • OMIM
    Links between OMIM and Gene are calculated by Gene based on MIM numbers included in the summary and phenotype sections of the Gene record.
  • PubMed (OMIM)
    Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
  • RefSeq RNAs
    Link to Nucleotide RefSeq RNAs
  • RefSeqGene
    Link to Nucleotide RefSeqGenes
  • SNP: GeneView
    SNPs linked from GeneView
  • SNP: Genotype
    Gene Genotype Report
  • SNP: VarView
    Related Clinical SNP

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