MED12 mediator complex subunit 12

Gene ID: 9968, updated on 27-Nov-2024
Gene type: protein coding
Also known as: Kto; OKS; FGS1; HDKR; HOPA; OPA1; OHDOX; ARC240; CAGH45; MED12S; TNRC11; TRAP230

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Blepharophimosis - intellectual disability syndrome, MKB type MedGen: C3698541OMIM: 300895GeneReviews: MED12-Related Disorders	See labs
Cholestasis-pigmentary retinopathy-cleft palate syndrome MedGen: C0795969OMIM: 301068GeneReviews: MED12-Related Disorders	See labs
FG syndrome 1 MedGen: C5399762OMIM: 305450GeneReviews: MED12-Related Disorders	See labs
X-linked intellectual disability with marfanoid habitus MedGen: C0796022OMIM: 309520GeneReviews: MED12-Related Disorders	See labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2018-08-22) ClinGen Genome Curation Page Haploinsufficency No evidence available (Last evaluated 2018-08-22) ClinGen Genome Curation PagePubMed

Genomic context

Location:: Xq13.1

Sequence:: Chromosome: X; NC_000023.11 (71118596..71142450)

Total number of exons:: 44

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for MED12 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MED12 @ LOVD
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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