ID:MED12_HUMAN DESCRIPTION: RecName: Full=Mediator of RNA polymerase II transcription subunit 12; AltName: Full=Activator-recruited cofactor 240 kDa component; Short=ARC240; AltName: Full=CAG repeat protein 45; AltName: Full=Mediator complex subunit 12; AltName: Full=OPA-containing protein; AltName: Full=Thyroid hormone receptor-associated protein complex 230 kDa component; Short=Trap230; AltName: Full=Trinucleotide repeat-containing gene 11 protein; 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. 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). TISSUE SPECIFICITY: Ubiquitous. DISEASE: 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. DISEASE: 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. SIMILARITY: Belongs to the Mediator complex subunit 12 family. SEQUENCE CAUTION: Sequence=AAD22033.1; Type=Erroneous initiation; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MED12";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q93074
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
