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MED12 mediator complex subunit 12 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_005120 Homo sapiens mediator complex subunit 12 (MED12), mRNA. GenEZ ORF Cloning On-demand TBD TBD
XM_005262317 PREDICTED: Homo sapiens mediator complex subunit 12 (MED12), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand TBD TBD
XM_005262319 PREDICTED: Homo sapiens mediator complex subunit 12 (MED12), transcript variant X3, mRNA. GenEZ ORF Cloning On-demand TBD TBD

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Related Services

Gene Symbol MED12
Entrez Gene ID 9968
Full Name mediator complex subunit 12
Synonyms ARC240, CAGH45, FGS1, HOPA, MED12S, OHDOX, OKS, OPA1, TNRC11, TRAP230
General protein information
Preferred Names
mediator of RNA polymerase II transcription subunit 12
Names
mediator of RNA polymerase II transcription subunit 12
CAG repeat protein 45
human opposite paired
OPA-containing protein
putative mediator subunit 12
activator-recruited cofactor 240 kDa component
trinucleotide repeat-containing gene 11 protein
thyroid hormone receptor-associated protein, 230 kDa subunit
mediator of RNA polymerase II transcription, subunit 12 homolog
thyroid hormone receptor-associated protein complex 230 kDa component
trinucleotide repeat containing 11 (THR-associated protein, 230 kDa subunit)
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

X

Xq13

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].
Disorder

MIM: 300188

Opitz-Kaveggia syndrome, 305450 (3); Lujan-Fryns syndrome, 309520 (3)

mRNA Protein Product Sequence Price Select
NM_005120, 110347428 NP_005111, 110347429 mediator of RNA polymerase II transcription subunit 12 ORF Sequence $3500.00
XM_005262317, 530421856 XP_005262374, 530421857 mediator of RNA polymerase II transcription subunit 12 isoform X1 ORF Sequence $3500.00
XM_005262319, 530421860 XP_005262376, 530421861 mediator of RNA polymerase II transcription subunit 12 isoform X3 ORF Sequence $3500.00
KEGG
hsa04919Thyroid hormone signaling pathway
Pathway Interaction Database
wnt_beta_catenin_pathwayRegulation of Wnt-mediated beta catenin signaling and target gene transcription
Reactome
REACT_19241Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
REACT_12627Generic Transcription Pathway
REACT_71Gene Expression
REACT_22279Fatty acid, triacylglycerol, and ketone body metabolism
REACT_22258Metabolism of lipids and lipoproteins
REACT_27161Transcriptional regulation of white adipocyte differentiation
REACT_111217Metabolism
REACT_111045Developmental Biology
REACT_116145PPARA activates gene expression
Homo sapiens (human)MED12NP_005111.2
Pan troglodytes (chimpanzee)MED12NP_001009019.1
Macaca mulatta (Rhesus monkey)MED12XP_001088424.2
Canis lupus familiaris (dog)MED12XP_003640267.1
Bos taurus (cattle)MED12NP_001192807.1
Mus musculus (house mouse)Med12NP_067496.2
Rattus norvegicus (Norway rat)Med12NP_001180221.1
Gallus gallus (chicken)MED12XP_004940691.1
Danio rerio (zebrafish)med12NP_001034550.1
Xenopus (Silurana) tropicalis (western clawed frog)med12XP_002934949.2
Process
IDNameEvidence
GO:0001843neural tube closureIEA
GO:0006367transcription initiation from RNA polymerase II promoterIDA
GO:0006367transcription initiation from RNA polymerase II promoterTAS
GO:0007507heart developmentIEA
GO:0010467gene expressionTAS
GO:0014003oligodendrocyte developmentIEA
GO:0014044Schwann cell developmentIEA
GO:0019827stem cell maintenanceIEA
GO:0030178negative regulation of Wnt signaling pathwayIMP
GO:0030518intracellular steroid hormone receptor signaling pathwayIDA
GO:0030521androgen receptor signaling pathwayIDA
GO:0045893positive regulation of transcription, DNA-templatedIDA
GO:0045944positive regulation of transcription from RNA polymerase II promoterIDA
GO:0060070canonical Wnt signaling pathwayIEA
GO:0060071Wnt signaling pathway, planar cell polarity pathwayIEA
GO:0090245axis elongation involved in somitogenesisIEA
Component
IDNameEvidence
GO:0005634nucleusIDA
GO:0005654nucleoplasmTAS
GO:0016020membraneIDA
GO:0016592mediator complexIDA
Function
IDNameEvidence
GO:0000980RNA polymerase II distal enhancer sequence-specific DNA bindingIEA
GO:0001104RNA polymerase II transcription cofactor activityIDA
GO:0001190RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcriptionIEA
GO:0003682chromatin bindingIEA
GO:0003712transcription cofactor activityIDA
GO:0003713transcription coactivator activityIDA
GO:0004872receptor activityIDA
GO:0005515protein bindingIPI
GO:0008013beta-catenin bindingIEA
GO:0008022protein C-terminus bindingIPI
GO:0019904protein domain specific bindingIPI
GO:0030374ligand-dependent nuclear receptor transcription coactivator activityNAS
GO:0042809vitamin D receptor bindingNAS
GO:0046966thyroid hormone receptor bindingIDA
GeneCards MED12
UniProt Q93074
Vega OTTHUMG00000021788
MIM 300188
Ensembl ENSG00000184634
HGNC 11957
HPRD 02176

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the MED12 gene?

The MED12 gene provides instructions for making a protein called mediator complex subunit 12. As its name suggests, this protein forms one part (subunit) of the mediator complex, which is a group of about 25 proteins that work together to regulate gene activity. The mediator complex physically links transcription factors, which are proteins that influence whether genes are turned on or off, with an enzyme called RNA polymerase II. Once transcription factors are attached, this enzyme initiates gene transcription, the process by which information stored in a gene's DNA is used to build proteins.

Researchers believe that the MED12 protein is involved in many aspects of early development, including the development of nerve cells (neurons) in the brain. The MED12 protein is part of several chemical signaling pathways within cells. These pathways help direct a broad range of cellular activities, such as cell growth, cell movement (migration), and the process by which cells mature to carry out specific functions (differentiation).

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