MED12

MED12 Gene 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]

Details

Type
Protein Coding
Official Symbol
MED12
Official Name
mediator complex subunit 12 [Source:HGNC Symbol;Acc:HGNC:11957]
Ensembl ID
ENSG00000184634
Bio databases IDs NCBI: 9968 Ensembl: ENSG00000184634
Aliases mediator complex subunit 12, Kohtalo homolog
Synonyms
ARC240,CAGH45,FGS1,HDKR,HOPA,Kto,LOC683401,MED12S,mediator complex subunit 12,Mopa,OHDOX,OKS,OPA-1,OPA containing,OPA-containing protein 1,TNRC11,TRAP230
Species
Human, Homo sapiens

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • transcription regulator
  • transcription co-activator
  • nucleic acid binding
  • ubiquitin protein ligase activity
  • transcription cofactor
  • transcription factor binding
  • chromatin binding
  • protein binding
  • thyroid hormone receptor binding
  • sequence-specific DNA binding
  • Eukaryotic Mediator 12 catenin-binding domain
  • Eukaryotic Mediator 12 subunit domain
  • double-stranded DNA binding
  • MED12 activation helix
  • Transcription mediator complex subunit Med12

Pathways

Biological processes and signaling networks where the MED12 gene plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
binds
  • ESR2
  • ESR1
  • CDK9
  • FBXW7
  • MED21
  • MED10
  • MED17
  • CCT5
  • GCN1
  • DNA-PK
disease
  • metastasis
  • cancer
  • benign neoplasia
  • hereditary disorder
  • fibroepithelial breast tumor
  • neoplasia
  • familial thoracic aortic aneurysms and dissections
  • uterine leiomyoma
  • leiomyomatosis
  • MED12-related intellectual disability syndrome
regulated by
  • urethane
  • sirolimus
  • KRAS
  • beta-estradiol
  • LEP
  • FBXW7
  • CDK19
  • CDK8
  • mediator
  • MED12
regulates
  • RELA
  • MYC
  • KLK3
  • TJP1
  • LIF
  • DNA promoter
  • DNA endogenous promoter
  • BMP4
  • SMAD2
  • GDF15
role in cell
  • apoptosis
  • phosphorylation in
  • expression in
  • survival
  • proliferation
  • cisplatin resistance
  • berzosertib resistance
  • differentiation
  • berzosertib sensitivity
  • olaparib resistance

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Nucleus
  • nuclear fraction
  • nucleoplasm
  • chromatin

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the MED12 gene, providing context for its role in the cell.

BIOLOGICAL PROCESS

Functions and activities the gene product is involved in
  • oligodendrocyte development
  • axis elongation involved in somitogenesis
  • Schwann cell development
  • positive regulation of transcription initiation from RNA polymerase II promoter
  • endoderm development
  • embryonic neurocranium morphogenesis
  • positive regulation of transcription from RNA polymerase II promoter
  • spinal cord development
  • heart development
  • neural tube closure
  • positive regulation of transcription, DNA-dependent
  • somatic stem cell maintenance
  • Wnt receptor signaling pathway, planar cell polarity pathway
  • protein ubiquitination

CELLULAR COMPONENT

Where in the cell the gene product is active
  • nucleus
  • ubiquitin ligase complex
  • mediator complex
  • membrane
  • nucleoplasm

MOLECULAR FUNCTION

What the gene product does at the molecular level
  • protein binding
  • transcription cofactor activity
  • transcription coactivator activity
  • RNA polymerase II core promoter proximal region sequence-specific DNA binding
  • ligand-dependent nuclear receptor transcription coactivator activity
  • vitamin D receptor binding
  • transcription factor binding
  • beta-catenin binding
  • chromatin binding
  • thyroid hormone receptor binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.