Gene Report

Basic Information

Approved Symbol	MED12
Approved Name	mediator complex subunit 12
Previous Symbol	TNRC11, FGS1
Previous Name	"trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)", "mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)", "FG syndrome 1"
Symbol Alias	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS
Location	Xq13
Position	chrX:70362069-70362304 (+)
External Links	Entrez Gene: 9968 Ensembl: ENSG00000184634 UCSC: uc004dyy.3 HGNC ID: 11957
No. of Studies (Positive/Negative)	1(1/0)
Type	Literature-origin

Positive relationships between MED12 and MDD (count: 1)

Name in Literature	Reference	Research Type	Statistical Result	Relation Description
HOPA	Philibert, 2002	patients and normal controls		HOPA polymorphisms were associated with an increased risk fo...... HOPA polymorphisms were associated with an increased risk for major depression. More...

Positive relationships between MED12 and other components at different levels (count: 0)

Positive relationship network of MED12 in MK4MDD

Network loading ...

Note:
1. The different color of the nodes denotes the level of the nodes.

Genetic/Epigenetic Locus	Protein and Other Molecule	Cell and Molecular Pathway	Neural System	Cognition and Behavior	Symptoms and Signs	Environment	MDD

2. Besides the component related relationships from literature, gene mapped protein and protein mapped gene are also shown in the network. If the mapped gene or protein is not from literature, square node would be used instead of Circle node. Accordingly, the relationship is marked with dot line.
2. User can drag the nodes to rearrange the layout of the network. Click the node will enter the report page of the node. Right-click will show also the menus to link to the report page of the node and remove the node and related edges. Hover the node will show the level of the node and hover the edge will show the evidence/description of the edge.
3. The network is generated using Cytoscape Web

Negative relationships between MED12 and MDD (count: 0)

Negative relationships between MED12 and other components at different levels (count: 0)

MED12 related SNPs in MK4MDD (count: 0)

MED12 related proteins in MK4MDD (count: 0)

MED12 related GO terms (count: 43)

ID	Name	Type	Evidence
Gene mapped GO terms
GO:0007507	heart development	biological process	IEA
GO:0019827	stem cell population maintenance	biological process	IEA
GO:0001843	neural tube closure	biological process	IEA
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	biological process	IDA[12037571]
GO:0030521	androgen receptor signaling pathway	biological process	IDA[12218053]
GO:0030374	ligand-dependent nuclear receptor transcription coactivator activity	molecular function	NAS[10235266]
GO:0007492	endoderm development	biological process	IEA
GO:0004872	receptor activity	molecular function	IDA[12218053]
GO:1990403	embryonic brain development	biological process	IEA
GO:0016592	mediator complex	cellular component	IDA[10198638\|12037571]
GO:0003713	transcription coactivator activity	molecular function	IDA[12037571]
GO:0061630	ubiquitin protein ligase activity	molecular function	IEA
GO:0016567	protein ubiquitination	biological process	IEA
GO:0001104	RNA polymerase II transcription cofactor activity	molecular function	IDA[10198638]
GO:0005634	nucleus	cellular component	IDA[10235267\|17000779]
GO:0005515	protein binding	molecular function	IPI[21293490\|23178117\|26496610]
GO:0008013	beta-catenin binding	molecular function	IEA
GO:0000151	ubiquitin ligase complex	cellular component	IEA
GO:0060070	canonical Wnt signaling pathway	biological process	IEA
GO:0048702	embryonic neurocranium morphogenesis	biological process	IEA
GO:0005813	centrosome	cellular component	IDA
GO:0019904	protein domain specific binding	molecular function	IPI[11984006]
GO:0005654	nucleoplasm	cellular component	IDA; TAS
GO:0021510	spinal cord development	biological process	IEA
GO:0016020	membrane	cellular component	IDA[19946888]
GO:0045893	positive regulation of transcription, DNA-templated	biological process	IDA[10198638]
GO:0060071	Wnt signaling pathway, planar cell polarity pathway	biological process	IEA
GO:0014003	oligodendrocyte development	biological process	IEA
GO:0003682	chromatin binding	molecular function	IEA
GO:0003712	transcription cofactor activity	molecular function	IDA[12218053]
GO:0036342	post-anal tail morphogenesis	biological process	IEA
GO:0005730	nucleolus	cellular component	IDA
GO:0014044	Schwann cell development	biological process	IEA
GO:0046966	thyroid hormone receptor binding	molecular function	IDA[10198638]
GO:0042809	vitamin D receptor binding	molecular function	NAS[10235266]
GO:0006367	transcription initiation from RNA polymerase II promoter	biological process	IDA[12218053]; TAS
GO:0030178	negative regulation of Wnt signaling pathway	biological process	IMP[17000779]
GO:0090245	axis elongation involved in somitogenesis	biological process	IEA
GO:0008022	protein C-terminus binding	molecular function	IPI[17000779]
GO:0000980	RNA polymerase II distal enhancer sequence-specific DNA binding	molecular function	IEA
GO:0010467	gene expression	biological process	TAS
GO:0001105	RNA polymerase II transcription coactivator activity	molecular function	IBA
GO:0030518	intracellular steroid hormone receptor signaling pathway	biological process	IDA[11867769]

MED12 related KEGG pathways (count: 0)

MED12 related BioCarta pathways (count: 0)

MED12 related Reactome pathways (count: 2)

ID	Name	Description
Gene mapped Reactome pathways
REACT_71	gene expression	Gene Expression covers the process of transcription of mRNA ...... Gene Expression covers the process of transcription of mRNA genes, the processing of pre-mRNA, and its subsequent translation to result in a protein. The expression of non-protein-coding genes is not included in this section yet. However, the transcription of RNAs other than mRNA is described in the section on transcription; in the sections 'RNA Polymerase I Transcription', and 'RNA Polymerase III Transcription'. More...
REACT_12627	generic transcription_pathway	OVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of ge...... OVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or tissue-specific regulation of differential gene transcription is mediated. Of the three major classes of DNA polymerase involved in eukaryotic gene transcription, Polymerase II generally regulates protein-encoding genes. Figure 1 shows a diagram of the various components involved in cell-specific regulation of Pol-II gene transcription. Core Promoter: Pol II-regulated genes typically have a Core Promoter where Pol II and a variety of general factors bind to specific DNA motifs: i: the TATA box and transcription repressor. The DRIP co-activator complex was originally identified and named as a specific complex associated with the Vitamin D Receptor member of the nuclear receptor family of transcription factors. Similarly, the TRAP co-activator complex was originally identified as a complex that associates with the thyroid receptor. It was later determined that all of the components of the DRIP complex are also present in the TRAP complex, and the ARC complex. In addition, these various transcription co-activator proteins identified in mammalian cells were found to be the orthologues or homologues of the Mediator. The Mediator proteins were originally identified in yeast by Kornberg and colleagues, as complexes associated with DNA polymerase. In higher organisms, Adapter complexes bridge between the basal transcription factors. For example, the DRIP205 / TRAP220 proteins are now identified as Mediator 1 , based on homology with yeast Mediator 1. Example Pathway: Specific Regulation of Target Genes During Notch Signaling: One well-studied example of cell-specific regulation of gene transcription is selective regulation of target genes during Notch signaling. Notch signaling was first identified in Drosophila, where it has been studied in detail at the genetic, molecular, biochemical and cellular levels. In Drosophila, Notch signaling to the nucleus is thought always to be mediated by one specific DNA binding transcription factor, Suppressor of Hairless. In mammals, the homologous genes are called CBF1. All three of the co-repressor proteins have been shown to be necessary for proper gene regulation during Notch signaling in vivo. In mammals, the same general pathway and mechanisms are observed, where CSL proteins are bifunctional DNA binding transcription factors. Thus, CSL is a good example of a bifunctional DNA-binding transcription factor that mediates repression of specific targets genes in one context, but activation of the same targets in another context. This bifunctionality is mediated by the association of specific Co-Repressor complexes vs. specific Co-Activator complexes in different contexts, namely in the absence or presence of Notch signaling. More...

MED12 related interactors from protein-protein interaction data in HPRD (count: 9)

Gene	Interactor	Interactor in MK4MDD?	Experiment Type	PMID
MED12	MED26	No	in vitro	15175163
MED12	MED12	Yes	in vitro	14638676
MED12	LYST	No	in vivo;yeast 2-hybrid	11984006
MED12	MED1	No	in vivo	15175163
MED12	SOX9	No	in vitro;in vivo	12136106
MED12	MED9	No	in vitro	14638676
MED12	MED13	No	in vitro;in vivo	15175163
MED12	CDK8	Yes	in vivo	15175163
MED12	MED8	No	in vitro	12584197

Gene Report

Gene mapped GO terms

Gene mapped Reactome pathways