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

Gene ID: 9968, updated on 5-Jan-2023

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; AllianceGenome:HGNC:11957
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
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]
Expression
Ubiquitous expression in ovary (RPKM 11.0), spleen (RPKM 10.1) and 25 other tissues See more
Orthologs
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Genomic context

See MED12 in Genome Data Viewer
Location:
Xq13.1
Exon count:
44
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (71118596..71142450)
110 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (69552699..69576535)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (70338446..70362300)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene chromosome X open reading frame 65 Neighboring gene interleukin 2 receptor subunit gamma Neighboring gene uncharacterized LOC124905197 Neighboring gene neuroligin 3 Neighboring gene Sharpr-MPRA regulatory region 11812

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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

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
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
enables beta-catenin binding IEA
Inferred from Electronic Annotation
more info
 
enables chromatin binding IEA
Inferred from Electronic Annotation
more info
 
enables nuclear receptor coactivator activity NAS
Non-traceable Author Statement
more info
PubMed 
enables nuclear thyroid hormone receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
enables nuclear vitamin D receptor binding NAS
Non-traceable Author Statement
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein domain specific binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables transcription coactivator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables transcription coactivator activity IDA
Inferred from Direct Assay
more info
PubMed 
enables transcription coregulator activity IDA
Inferred from Direct Assay
more info
PubMed 
enables transcription factor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables ubiquitin protein ligase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
 
involved_in Schwann cell development IEA
Inferred from Electronic Annotation
more info
 
involved_in Wnt signaling pathway, planar cell polarity pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in axis elongation involved in somitogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in embryonic brain development IEA
Inferred from Electronic Annotation
more info
 
involved_in embryonic neurocranium morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in endoderm development IEA
Inferred from Electronic Annotation
more info
 
involved_in heart development IEA
Inferred from Electronic Annotation
more info
 
involved_in neural tube closure IEA
Inferred from Electronic Annotation
more info
 
involved_in oligodendrocyte development IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of transcription initiation by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
involved_in post-anal tail morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in protein ubiquitination IEA
Inferred from Electronic Annotation
more info
 
involved_in somatic stem cell population maintenance IEA
Inferred from Electronic Annotation
more info
 
involved_in spinal cord development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
part_of mediator complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of mediator complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in membrane HDA PubMed 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
part_of 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
Kohtalo homolog
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)

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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
    5041..28895
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005120.3NP_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, Q9UND7
    Related
    ENSP00000363193.3, ENST00000374080.8
    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 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    71118596..71142450
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047442700.1XP_047298656.1  mediator of RNA polymerase II transcription subunit 12 isoform X2

  2. XM_047442703.1XP_047298659.1  mediator of RNA polymerase II transcription subunit 12 isoform X5

  3. XM_047442701.1XP_047298657.1  mediator of RNA polymerase II transcription subunit 12 isoform X3

  4. XM_047442699.1XP_047298655.1  mediator of RNA polymerase II transcription subunit 12 isoform X1

  5. XM_047442702.1XP_047298658.1  mediator of RNA polymerase II transcription subunit 12 isoform X4

    Related
    ENSP00000509011.1, ENST00000691468.1
  6. XM_047442704.1XP_047298660.1  mediator of RNA polymerase II transcription subunit 12 isoform X6

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    69552699..69576535
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)