U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

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

    Gene ID: 9968, updated on 3-Mar-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MED12 in Genome Data Viewer
    Location:
    Xq13.1
    Exon count:
    44
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (71118596..71142450)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (69551517..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 MED14-independent group 3 enhancer GRCh37_chrX:70330888-70332087 Neighboring gene interleukin 2 receptor subunit gamma Neighboring gene BRD4-independent group 4 enhancer GRCh37_chrX:70342400-70343599 Neighboring gene uncharacterized LOC124905197 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:70365507-70365762 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:70367337-70367883 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:70367884-70368430 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:70373033-70373532 Neighboring gene neuroligin 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29738 Neighboring gene Sharpr-MPRA regulatory region 11812 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29739 Neighboring gene uncharacterized LOC107985688 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29740

    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

    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 transcription coactivator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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
     
    enables ubiquitin protein ligase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    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
     
    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 CKM complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    part_of CKM complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    part_of mediator complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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)

    NEW Try the new Transcript table

    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
      O15410, O75557, Q93074, Q9UHV6, Q9UND7
      UniProtKB/TrEMBL
      B4DYQ3
      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: GCF_000001405.40-RS_2023_10

    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

      UniProtKB/TrEMBL
      B4DYQ3
    2. XM_047442703.1XP_047298659.1  mediator of RNA polymerase II transcription subunit 12 isoform X5

      UniProtKB/TrEMBL
      B4DYQ3
    3. XM_047442701.1XP_047298657.1  mediator of RNA polymerase II transcription subunit 12 isoform X3

      UniProtKB/TrEMBL
      B4DYQ3
    4. XM_047442699.1XP_047298655.1  mediator of RNA polymerase II transcription subunit 12 isoform X1

      UniProtKB/TrEMBL
      B4DYQ3
    5. XM_047442702.1XP_047298658.1  mediator of RNA polymerase II transcription subunit 12 isoform X4

      UniProtKB/TrEMBL
      B4DYQ3
      Related
      ENSP00000509011.1, ENST00000691468.1
    6. XM_047442704.1XP_047298660.1  mediator of RNA polymerase II transcription subunit 12 isoform X6

      UniProtKB/TrEMBL
      B4DYQ3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      69551517..69576535
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054328233.1XP_054184208.1  mediator of RNA polymerase II transcription subunit 12 isoform X2

      UniProtKB/TrEMBL
      B4DYQ3
    2. XM_054328236.1XP_054184211.1  mediator of RNA polymerase II transcription subunit 12 isoform X5

      UniProtKB/TrEMBL
      B4DYQ3
    3. XM_054328234.1XP_054184209.1  mediator of RNA polymerase II transcription subunit 12 isoform X3

      UniProtKB/TrEMBL
      B4DYQ3
    4. XM_054328232.1XP_054184207.1  mediator of RNA polymerase II transcription subunit 12 isoform X1

      UniProtKB/TrEMBL
      B4DYQ3
    5. XM_054328235.1XP_054184210.1  mediator of RNA polymerase II transcription subunit 12 isoform X4

      UniProtKB/TrEMBL
      B4DYQ3
    6. XM_054328237.1XP_054184212.1  mediator of RNA polymerase II transcription subunit 12 isoform X6

      UniProtKB/TrEMBL
      B4DYQ3