MED12

Also known as OKS, OPA1, ARC240, CAGH45, FGS1, HOPA, MED12S, OHDOX

Mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae), also known as MED12, is a human gene found on the X chromosome.

In the Vinony graph

Vinony's link graph records 19 inbound references to MED12, and connects out to PubMed, X chromosome and Ensembl genome database project.

It is catalogued under the topic Genes on human chromosome X.

Vinony links it to 4 Wikipedia language editions.

Gene data

MED12

Name: mediator complex subunit 12
Type: protein-coding
Chromosome: X
Position: 71,118,543–71,144,103 (+)
Aliases: ARC240, CAGH45, FGS1, HDKR, HOPA, Kto, MED12S, OHDOX, OKS, OPA1
Ensembl: ENSG00000184634
RefSeq RNA: NM_005120.3, XM_047442699.1, XM_047442700.1, XM_047442701.1, XM_047442702.1
RefSeq protein: NP_005111.2, XP_047298655.1, XP_047298656.1, XP_047298657.1, XP_047298658.1

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].

Pathways

Thyroid hormone signaling pathway - Homo sapiens (human)Developmental Biology Developmental Biology Metabolism Disease PPARA activates gene expression Epigenetic regulation of gene expression Epigenetic regulation of gene expression Generic Transcription Pathway Transcriptional regulation of white adipocyte differentiation

via MyGene.info

Gene · Ensembl

mediator complex subunit 12

Symbol: MED12
Biotype: Protein coding
Organism: Homo sapiens
Location: Chr X:71,118,543-71,144,103
Strand: Forward (+)
Assembly: GRCh38

View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Instance of: gene

Show 7 more facts

found in taxon: Homo sapiens
HomoloGene ID: 68441
exact match: identifiers.org/ncbigene/9968
chromosome: human X chromosome
genomic end: 71144103
genomic start: 71118543
cytogenetic location: Xq13.1

Sources (5)

via Wikidata · CC0

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Encyclopedic overview

5 sections

Contents

Clinical significance
Interactions
References
Further reading
External links

Mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae), also known as MED12, is a human gene found on the X chromosome.

== Clinical significance == Mutations in MED12 are responsible for at least two different forms of X-linked dominant Intellectual disability, Lujan-Fryns syndrome and FG syndrome, as well as instances of prostate cancer.

Excerpted from Wikipedia’s “MED12” article, available under the CC BY-SA 4.0 licence.