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Aliases for MED12 Gene

Aliases for MED12 Gene

  • Mediator Complex Subunit 12 2 3 4
  • TRAP230 3 4 6
  • TNRC11 3 4 6
  • HOPA 3 4 6
  • Thyroid Hormone Receptor-Associated Protein Complex 230 KDa Component 3 4
  • Trinucleotide Repeat-Containing Gene 11 Protein 3 4
  • Activator-Recruited Cofactor 240 KDa Component 3 4
  • OPA-Containing Protein 3 4
  • CAG Repeat Protein 45 3 4
  • KIAA0192 4 6
  • ARC240 3 4
  • CAGH45 3 4
  • OHDOX 3 6
  • FGS1 3 6
  • OKS 3 6
  • Mediator Of RNA Polymerase II Transcription, Subunit 12 Homolog (S. Cerevisiae) 2
  • Trinucleotide Repeat Containing 11 (THR-Associated Protein, 230 KDa Subunit) 3
  • Trinucleotide Repeat Containing 11 (THR-Associated Protein, 230kDa Subunit) 2
  • Mediator Of RNA Polymerase II Transcription, Subunit 12 Homolog 3
  • Thyroid Hormone Receptor-Associated Protein, 230 KDa Subunit 3
  • Mediator Of RNA Polymerase II Transcription Subunit 12 3
  • Putative Mediator Subunit 12 3
  • Human Opposite Paired 3
  • FG Syndrome 1 2
  • MED12S 3
  • OPA1 3

External Ids for MED12 Gene

Previous HGNC Symbols for MED12 Gene

  • TNRC11
  • FGS1

Previous GeneCards Identifiers for MED12 Gene

  • GC0XP070122
  • GC0XP070256
  • GC0XP070338
  • GC0XP064157

Summaries for MED12 Gene

Entrez Gene Summary for MED12 Gene

  • 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]

GeneCards Summary for MED12 Gene

MED12 (Mediator Complex Subunit 12) is a Protein Coding gene. Diseases associated with MED12 include opitz-kaveggia syndrome and lujan-fryns syndrome. Among its related pathways are L1CAM interactions and Regulation of Wnt-mediated beta catenin signaling and target gene transcription. GO annotations related to this gene include chromatin binding and receptor activity. An important paralog of this gene is MED12L.

UniProtKB/Swiss-Prot for MED12 Gene

  • Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. This subunit may specifically regulate transcription of targets of the Wnt signaling pathway and SHH signaling pathway.

Gene Wiki entry for MED12 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MED12 Gene

Genomics for MED12 Gene

Regulatory Elements for MED12 Gene

Genomic Location for MED12 Gene

Start:
71,118,556 bp from pter
End:
71,142,454 bp from pter
Size:
23,899 bases
Orientation:
Plus strand

Genomic View for MED12 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MED12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MED12 Gene

Proteins for MED12 Gene

  • Protein details for MED12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q93074-MED12_HUMAN
    Recommended name:
    Mediator of RNA polymerase II transcription subunit 12
    Protein Accession:
    Q93074
    Secondary Accessions:
    • O15410
    • O75557
    • Q9UHV6
    • Q9UND7

    Protein attributes for MED12 Gene

    Size:
    2177 amino acids
    Molecular mass:
    243081 Da
    Quaternary structure:
    • Component of the Mediator complex, which is composed of MED1, MED4, MED6, MED7, MED8, MED9, MED10, MED11, MED12, MED13, MED13L, MED14, MED15, MED16, MED17, MED18, MED19, MED20, MED21, MED22, MED23, MED24, MED25, MED26, MED27, MED29, MED30, MED31, CCNC, CDK8 and CDC2L6/CDK11. The MED12, MED13, CCNC and CDK8 subunits form a distinct module termed the CDK8 module. Mediator containing the CDK8 module is less active than Mediator lacking this module in supporting transcriptional activation. Individual preparations of the Mediator complex lacking one or more distinct subunits have been variously termed ARC, CRSP, DRIP, PC2, SMCC and TRAP. Also interacts with CTNNB1 and GLI3.
    SequenceCaution:
    • Sequence=AAD22033.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for MED12 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MED12 Gene

Proteomics data for MED12 Gene at MOPED

Post-translational modifications for MED12 Gene

  • Ubiquitination at Lys80, Lys443, Lys762, Lys780, Lys785, Lys814, Lys1001, Lys1194, Lys1298, Lys1434, Lys1664, and Lys1674
  • Modification sites at PhosphoSitePlus

Other Protein References for MED12 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for MED12 Gene

Domains for MED12 Gene

Protein Domains for MED12 Gene

Suggested Antigen Peptide Sequences for MED12 Gene

Graphical View of Domain Structure for InterPro Entry

Q93074

UniProtKB/Swiss-Prot:

MED12_HUMAN :
  • Q93074
Family:
  • Belongs to the Mediator complex subunit 12 family.
genes like me logo Genes that share domains with MED12: view

No data available for Gene Families for MED12 Gene

Function for MED12 Gene

Molecular function for MED12 Gene

UniProtKB/Swiss-Prot Function: Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. This subunit may specifically regulate transcription of targets of the Wnt signaling pathway and SHH signaling pathway.

Gene Ontology (GO) - Molecular Function for MED12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding IEA --
GO:0001104 RNA polymerase II transcription cofactor activity IDA 10198638
GO:0001190 RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription IEA --
GO:0003682 chromatin binding IEA --
GO:0003712 transcription cofactor activity IDA 12218053
genes like me logo Genes that share ontologies with MED12: view
genes like me logo Genes that share phenotypes with MED12: view

Animal Models for MED12 Gene

MGI Knock Outs for MED12:

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for MED12 Gene

Localization for MED12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MED12 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MED12 Gene COMPARTMENTS Subcellular localization image for MED12 gene
Compartment Confidence
nucleus 5
plasma membrane 3
cytosol 1

Gene Ontology (GO) - Cellular Components for MED12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IDA --
GO:0005813 centrosome IDA --
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with MED12: view

Pathways for MED12 Gene

genes like me logo Genes that share pathways with MED12: view

Pathways by source for MED12 Gene

Gene Ontology (GO) - Biological Process for MED12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001843 neural tube closure IEA --
GO:0006357 regulation of transcription from RNA polymerase II promoter --
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
GO:0007507 heart development IEA --
GO:0010467 gene expression TAS --
genes like me logo Genes that share ontologies with MED12: view

Transcripts for MED12 Gene

Unigene Clusters for MED12 Gene

Mediator complex subunit 12:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MED12 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15 ^ 16a · 16b ^ 17 ^
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SP16: -
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ExUns: 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22 ^ 23a · 23b ^ 24a · 24b · 24c ^ 25a · 25b ^ 26a · 26b ^ 27a · 27b ^ 28a · 28b · 28c ^ 29a · 29b ^ 30a · 30b ^ 31a · 31b ^
SP1:
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SP4: - -
SP5: - -
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SP9: - -
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ExUns: 32 ^ 33a · 33b ^ 34 ^ 35a · 35b ^ 36 ^ 37 ^ 38 ^ 39 ^ 40a · 40b ^ 41 ^ 42 ^ 43a · 43b · 43c · 43d ^ 44 ^ 45 ^ 46a · 46b ^ 47 ^ 48 ^ 49 ^ 50
SP1:
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SP14: -
SP15: -
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SP25: -
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Relevant External Links for MED12 Gene

GeneLoc Exon Structure for
MED12
ECgene alternative splicing isoforms for
MED12

Expression for MED12 Gene

mRNA expression in normal human tissues for MED12 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for MED12 Gene

SOURCE GeneReport for Unigene cluster for MED12 Gene Hs.409226

mRNA Expression by UniProt/SwissProt for MED12 Gene

Q93074-MED12_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expressions with MED12: view

No data available for mRNA differential expression in normal tissues for MED12 Gene

Orthologs for MED12 Gene

This gene was present in the common ancestor of animals.

Orthologs for MED12 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MED12 35
  • 99.38 (n)
  • 99.53 (a)
MED12 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MED12 35
  • 93.53 (n)
  • 97.8 (a)
MED12 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MED12 35
  • 93.49 (n)
  • 98.49 (a)
MED12 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Med12 35
  • 91.04 (n)
  • 97.07 (a)
Med12 16
Med12 36
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MED12 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 69 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Med12 35
  • 91.32 (n)
  • 97.02 (a)
chicken
(Gallus gallus)
Aves MED12 35
  • 76.12 (n)
  • 85.07 (a)
MED12 36
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MED12 36
  • 80 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.6099 35
tropical clawed frog
(Silurana tropicalis)
Amphibia med12 35
  • 70.5 (n)
  • 78.25 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5135 35
zebrafish
(Danio rerio)
Actinopterygii med12 35
  • 71.17 (n)
  • 76.76 (a)
med12 36
  • 54 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta kto 36
  • 33 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea dpy-22 36
  • 11 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 39 (a)
OneToMany
Species with no ortholog for MED12:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MED12 Gene

ENSEMBL:
Gene Tree for MED12 (if available)
TreeFam:
Gene Tree for MED12 (if available)

Paralogs for MED12 Gene

Paralogs for MED12 Gene

Selected SIMAP similar genes for MED12 Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for MED12 Gene

genes like me logo Genes that share paralogs with MED12: view

Variants for MED12 Gene

Sequence variations from dbSNP and Humsavar for MED12 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs1139013 - 71,132,128(+) CCAAC(A/G)GTCAG reference, missense
rs2075790 -- 71,125,743(+) GCCCT(C/T)CCTCC intron-variant
rs2471965 -- 71,130,422(+) TATTA(G/T)GTGAG intron-variant
rs2471966 -- 71,133,541(+) gctgg(G/T)caggc intron-variant
rs2471967 -- 71,133,968(+) ctcac(G/T)cctgt intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MED12 Gene

Variant ID Type Subtype PubMed ID
esv1584074 OTHER Inversion 17803354
esv33082 CNV Loss 17666407

Relevant External Links for MED12 Gene

HapMap Linkage Disequilibrium report
MED12
Human Gene Mutation Database (HGMD)
MED12
Locus Specific Mutation Databases (LSDB)
MED12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MED12 Gene

Disorders for MED12 Gene

(3) OMIM Diseases for MED12 Gene (300188)

UniProtKB/Swiss-Prot

MED12_HUMAN
  • Opitz-Kaveggia syndrome (OKS) [MIM:305450]: X-linked disorder characterized by mental retardation, relative macrocephaly, hypotonia and constipation. {ECO:0000269 PubMed:17334363}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Lujan-Fryns syndrome (LUJFRYS) [MIM:309520]: Clinically, Lujan-Fryns syndrome can be distinguished from Opitz-Kaveggia syndrome by tall stature, hypernasal voice, hyperextensible digits and high nasal root. {ECO:0000269 PubMed:17369503}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Ohdo syndrome, X-linked (OHDOX) [MIM:300895]: A syndrome characterized by mental retardation, feeding problems, and distinctive facial appearance with coarse facial features, severe blepharophimosis, ptosis, a bulbous nose, micrognathia and a small mouth. Dental hypoplasia and deafness can be considered as common manifestations of the syndrome. Male patients show cryptorchidism and scrotal hypoplasia. {ECO:0000269 PubMed:23395478}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) Novoseek inferred disease relationships for MED12 Gene

Disease -log(P) Hits PubMed IDs
hypothyroidism 70.2 8
mental retardation 68 6
schizophrenia 50.4 8

Relevant External Links for MED12

GeneTests
MED12
GeneReviews
MED12
Genetic Association Database (GAD)
MED12
Human Genome Epidemiology (HuGE) Navigator
MED12
genes like me logo Genes that share disorders with MED12: view

Publications for MED12 Gene

  1. Population-based association analyses of the HOPA12bp polymorphism for schizophrenia and hypothyroidism. (PMID: 11424983) Philibert R.A. … Wassink T.H. (Am. J. Med. Genet. 2001) 3 23 48
  2. Association studies of the HOPA dodecamer duplication variant in different subtypes of autism. (PMID: 11840515) Beyer K.S. … Poustka A. (Am. J. Med. Genet. 2002) 3 23 48
  3. The association of a HOPA polymorphism with major depression and phobia. (PMID: 12216017) Philibert R. … Cadoret R.J. (Compr Psychiatry 2002) 3 23 48
  4. No association of a dodecamer duplication in the human opposite paired (HOPA) gene with mental retardation and schizophrenia in Chinese patients from Taiwan. (PMID: 12860370) Hung C.C. … Chen C.H. (Psychiatry Res 2003) 3 23 48
  5. The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene. (PMID: 17369503) Schwartz C.E. … Stevenson R.E. (J. Med. Genet. 2007) 3 4 23

Products for MED12 Gene

Sources for MED12 Gene

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