background:
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]
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.
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.
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.
Database links:
Entrez Gene: 9968 Human
Entrez Gene: 520974 Cow
Entrez Gene: 96952 Dog
Entrez Gene: 59024 Mouse
Entrez Gene: 100157450 Pig
Entrez Gene: 679693 Rat
Omim: 300188 Human
SwissProt: Q93074 Human
SwissProt: A2AGH6 Mouse
Unigene: 409226 Human
Unigene: 20873 Mouse
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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