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Gene: MED12 (mediator complex subunit 12) Homo sapiens
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Symbol: MED12
Name: mediator complex subunit 12
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: activator-recruited cofactor 240 kDa component; ARC240; CAG repeat protein 45; CAGH45; FG syndrome 1; FGS1; HOPA; human opposite paired; KIAA0192; MED12S; mediator of RNA polymerase II transcription subunit 12; mediator of RNA polymerase II transcription, subunit 12 homolog; mediator of rna polymerase ii transcription, subunit 12 homolog (yeast); OHDOX; OKS; OPA-containing protein; OPA1; putative mediator subunit 12; thyroid hormone receptor-associated protein complex 230 kDa component; thyroid hormone receptor-associated protein, 230 kDa subunit; TNRC11; TRAP230; trinucleotide repeat containing 11 (THR-associated protein, 230 kDa subunit); trinucleotide repeat-containing gene 11 protein
Orthologs:
Mus musculus (house mouse) : Med12 (mediator complex subunit 12)  MGI  Alliance
Rattus norvegicus (Norway rat) : Med12 (mediator complex subunit 12)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Med12 (mediator complex subunit 12)
Pan paniscus (bonobo/pygmy chimpanzee) : MED12 (mediator complex subunit 12)
Canis lupus familiaris (dog) : MED12 (mediator complex subunit 12)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Med12 (mediator complex subunit 12)
Sus scrofa (pig) : MED12 (mediator complex subunit 12)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X71,118,556 - 71,142,454 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X70,338,406 - 70,362,304 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X70,255,131 - 70,279,029 (+)NCBINCBI36hg18NCBI36
Build 34X70,121,593 - 70,145,168NCBI
CeleraX70,692,310 - 70,716,179 (+)NCBI
Cytogenetic MapXq13.1NCBI
HuRefX64,157,722 - 64,181,176 (+)NCBIHuRef
CHM1_1X70,231,161 - 70,255,024 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
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References - uncurated

Genomics

Comparative Map Data
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Sequence

Nucleotide Sequences
Protein Sequences
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Additional Information

External Database Links
Nomenclature History
 
More on MED12
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1350145
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-07-09
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.