Display Settings:

Format

Send to:

Choose Destination

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

Gene ID: 9968, updated on 11-Sep-2014
Official Symbol
MED12provided by HGNC
Official Full Name
mediator complex subunit 12provided by HGNC
Primary source
HGNC:HGNC:11957
See related
Ensembl:ENSG00000184634; HPRD:02176; 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]
See MED12 in Epigenomics, MapViewer
Location:
Xq13
Exon count:
45
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 chromosome X open reading frame 65 Neighboring gene interleukin 2 receptor, gamma Neighboring gene neuroligin 3 Neighboring gene gap junction protein, beta 1, 32kDa

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
FG syndrome
MedGen: C0220769 OMIM: 305450 GeneReviews: MED12-Related Disorders
Compare labs
Ohdo syndrome, X-linked
MedGen: CN169514 OMIM: 300895 GeneReviews: Not available
Compare labs
X-linked mental retardation with marfanoid habitus syndrome
MedGen: C0796022 OMIM: 309520 GeneReviews: MED12-Related Disorders
Compare labs

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated (2012-07-25)

ISCA Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated (2012-07-25)

ISCA Genome Curation Page
Products Interactant Other Gene Complex Source Pubs Description

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
 
RNA polymerase II transcription cofactor activity IDA
Inferred from Direct Assay
more info
PubMed 
RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription 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
 
ligand-dependent 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
 
protein domain specific binding IPI
Inferred from Physical Interaction
more info
PubMed 
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 IDA
Inferred from Direct Assay
more info
PubMed 
transcription cofactor activity IDA
Inferred from Direct Assay
more info
PubMed 
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
 
gene expression TAS
Traceable Author Statement
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 from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
stem cell 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 IDA
Inferred from Direct Assay
more info
PubMed 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
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)

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 

    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 proteins identical to NP_005111.2

    Status: REVIEWED

    Source sequence(s)
    AF071309, AF117755, BM662470, DB069668
    Consensus CDS
    CCDS43970.1
    UniProtKB/Swiss-Prot
    Q93074
    Related
    ENSP00000363193, OTTHUMP00000023491, ENST00000374080, OTTHUMT00000057105
    Conserved Domains (3) summary
    pfam09497
    Location:101161
    Med12; Transcription mediator complex subunit Med12
    pfam12144
    Location:18172020
    Med12-PQL; Eukaryotic Mediator 12 catenin-binding domain
    pfam12145
    Location:285757
    Med12-LCEWAV; Eukaryotic Mediator 12 subunit domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000023.11 

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

mRNA and Protein(s)

  1. XM_005262317.1XP_005262374.1  

    UniProtKB/Swiss-Prot
    Q93074
    Related
    ENSP00000333125, ENST00000333646
    Conserved Domains (3) summary
    pfam09497
    Location:101161
    Med12; Transcription mediator complex subunit Med12
    pfam12144
    Location:18172023
    Med12-PQL; Eukaryotic Mediator 12 catenin-binding domain
    pfam12145
    Location:285757
    Med12-LCEWAV; Eukaryotic Mediator 12 subunit domain
  2. XM_005262319.1XP_005262376.1  

    Conserved Domains (3) summary
    pfam09497
    Location:101161
    Med12; Transcription mediator complex subunit Med12
    pfam12144
    Location:18171998
    Med12-PQL; Eukaryotic Mediator 12 catenin-binding domain
    pfam12145
    Location:285757
    Med12-LCEWAV; Eukaryotic Mediator 12 subunit domain

Alternate HuRef

Genomic

  1. AC_000155.1 

    Range
    64157722..64181176
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 

    Range
    70231161..70255024
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)