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]
Tumor type associations:
- Bladder
- Breast
- Cervical
- Colorectal
- Endometrial
- Gastric
- Kidney
- Liver
- Lymphoma
- Melanoma
- Prostate
- Rnables RNA polymerase II cis-regulatory region sequence-specific DNA binding
- Enables chromatin binding
- Enables transcription coregulator activity
- Enables transcription coactivator activity
- Enables protein binding
- Part of ubiquitin ligase complex
- Located in nucleus
- Located in nucleoplasm
- Located in membrane
- Part of mediator complex
- Somitogenesis
- Involved in neural tube closure
- Involved in regulation of transcription by RNA polymerase II
- Involved in endoderm development
- Involved in heart development
- Hardikar syndrome
- Lujan-Fryns syndrome
- Ohdo syndrome, X-linked
- Opitz-Kaveggia syndrome
MED12 localizations – Subcellular Localization Database
Gene Location
