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

Gene ID: 9968, updated on 12-Aug-2018

Summary

Official Symbol
MED12provided by HGNC
Official Full Name
mediator complex subunit 12provided by HGNC
Primary source
HGNC:HGNC:11957
See related
Ensembl:ENSG00000184634 MIM:300188; Vega:OTTHUMG00000021788
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
OKS; FGS1; 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]
Expression
Ubiquitous expression in ovary (RPKM 11.0), spleen (RPKM 10.1) and 25 other tissues See more
Orthologs

Genomic context

See MED12 in Genome Data Viewer
Location:
Xq13.1
Exon count:
45
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) X NC_000023.11 (71118556..71142454)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (70338406..70362304)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene forkhead box O4 Neighboring gene chromosome X open reading frame 65 Neighboring gene interleukin 2 receptor subunit gamma Neighboring gene neuroligin 3 Neighboring gene uncharacterized LOC107985688

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0192

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA polymerase II distal enhancer sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
beta-catenin binding IEA
Inferred from Electronic Annotation
more info
 
chromatin binding IEA
Inferred from Electronic Annotation
more info
 
nuclear receptor transcription coactivator activity NAS
Non-traceable Author Statement
more info
PubMed 
protein C-terminus binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein domain specific binding IPI
Inferred from Physical Interaction
more info
PubMed 
signaling receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
thyroid hormone receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
transcription coactivator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription coactivator activity IDA
Inferred from Direct Assay
more info
PubMed 
transcription coregulator activity IDA
Inferred from Direct Assay
more info
PubMed 
ubiquitin protein ligase activity IEA
Inferred from Electronic Annotation
more info
 
vitamin D receptor binding NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
Schwann cell development IEA
Inferred from Electronic Annotation
more info
 
Wnt signaling pathway, planar cell polarity pathway IEA
Inferred from Electronic Annotation
more info
 
androgen receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
axis elongation involved in somitogenesis IEA
Inferred from Electronic Annotation
more info
 
canonical Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
 
embryonic brain development IEA
Inferred from Electronic Annotation
more info
 
embryonic neurocranium morphogenesis IEA
Inferred from Electronic Annotation
more info
 
endoderm development IEA
Inferred from Electronic Annotation
more info
 
heart development IEA
Inferred from Electronic Annotation
more info
 
intracellular steroid hormone receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of Wnt signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
neural tube closure IEA
Inferred from Electronic Annotation
more info
 
oligodendrocyte development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
post-anal tail morphogenesis IEA
Inferred from Electronic Annotation
more info
 
protein ubiquitination IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
spinal cord development IEA
Inferred from Electronic Annotation
more info
 
stem cell population maintenance IEA
Inferred from Electronic Annotation
more info
 
transcription initiation from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
transcription initiation from RNA polymerase II promoter TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
mediator complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mediator complex IDA
Inferred from Direct Assay
more info
PubMed 
membrane HDA PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
ubiquitin ligase complex IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
mediator of RNA polymerase II transcription subunit 12
Names
CAG repeat protein 45
OPA-containing protein
activator-recruited cofactor 240 kDa component
human opposite paired
mediator of RNA polymerase II transcription, subunit 12 homolog
putative mediator subunit 12
thyroid hormone receptor-associated protein complex 230 kDa component
thyroid hormone receptor-associated protein, 230 kDa subunit
trinucleotide repeat containing 11 (THR-associated protein, 230 kDa subunit)
trinucleotide repeat-containing gene 11 protein

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012808.1 RefSeqGene

    Range
    5001..28899
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005120.2NP_005111.2  mediator of RNA polymerase II transcription subunit 12

    See identical proteins and their annotated locations for NP_005111.2

    Status: REVIEWED

    Source sequence(s)
    AF071309, AF117755, BM662470, DB069668
    Consensus CDS
    CCDS43970.1
    UniProtKB/Swiss-Prot
    Q93074
    Related
    ENSP00000363193.3, OTTHUMP00000023491, ENST00000374080.7, OTTHUMT00000057105
    Conserved Domains (3) summary
    pfam09497
    Location:103161
    Med12; Transcription mediator complex subunit Med12
    pfam12144
    Location:18202019
    Med12-PQL; Eukaryotic Mediator 12 catenin-binding domain
    pfam12145
    Location:286757
    Med12-LCEWAV; Eukaryotic Mediator 12 subunit domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

    Range
    71118556..71142454
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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