MED12 Gene (Protein Coding)

Mediator Complex Subunit 12

GC0XP071118
GIFtS:
44
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, an... See more...

Aliases for MED12 Gene

Aliases for MED12 Gene

  • Mediator Complex Subunit 12 2 3 4 5
  • TRAP230 2 3 4
  • ARC240 2 3 4
  • CAGH45 2 3 4
  • HOPA 2 3 4
  • Thyroid Hormone Receptor-Associated Protein Complex 230 KDa Component 3 4
  • Mediator Of RNA Polymerase II Transcription Subunit 12 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
  • Kohtalo Homolog 2 3
  • KIAA0192 2 4
  • TNRC11 3 4
  • OPA1 2 3
  • Kto 2 3
  • OKS 2 3
  • 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
  • Putative Mediator Subunit 12 3
  • Human Opposite Paired 3
  • FG Syndrome 1 2
  • Trap230 4
  • MED12S 3
  • OHDOX 3
  • MED12 5
  • FGS1 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 Ohdo Syndrome, X-Linked. Among its related pathways are Regulation of Wnt-mediated beta catenin signaling and target gene transcription and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). Gene Ontology (GO) annotations related to this gene include chromatin binding. An important paralog of this gene is MED12L.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for MED12 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MED12 Gene

Genomics for MED12 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for MED12 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MED12 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MED12

Top Transcription factor binding sites by QIAGEN in the MED12 gene promoter:
  • Evi-1
  • FOXO3
  • GR
  • GR-alpha
  • GR-beta
  • HOXA5
  • IRF-7A
  • Nkx2-5
  • NRSF form 1
  • NRSF form 2

Genomic Locations for MED12 Gene

Genomic Locations for MED12 Gene
chrX:71,118,556-71,142,454
(GRCh38/hg38)
Size:
23,899 bases
Orientation:
Plus strand
chrX:70,338,406-70,362,304
(GRCh37/hg19)
Size:
23,899 bases
Orientation:
Plus strand

Genomic View for MED12 Gene

Genes around MED12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MED12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MED12 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for MED12 Gene

Proteins for MED12 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for MED12 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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:
REFSEQ proteins:

No data available for DME Specific Peptides for MED12 Gene

Domains & Families for MED12 Gene

Gene Families for MED12 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for MED12 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MED12 Gene

GenScript: Design optimal peptide antigens:
  • Trinucleotide repeat-containing gene 11 protein (MED12_HUMAN)
  • TNRC11 protein (Q7Z2E0_HUMAN)
  • TNRC11 protein (Q7Z2F1_HUMAN)
  • TNRC11 protein (Q7Z2F4_HUMAN)
  • TNRC11 protein (Q7Z2K3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q93074

UniProtKB/Swiss-Prot:

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

Function for MED12 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
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  6. Cell Line

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.

Phenotypes From GWAS Catalog for MED12 Gene

Gene Ontology (GO) - Molecular Function for MED12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0003682 chromatin binding IEA --
GO:0003712 transcription coregulator activity IEA,IDA 10198638
GO:0003713 transcription coactivator activity IEA,IDA 12037571
GO:0005515 protein binding IPI 21293490
genes like me logo Genes that share ontologies with MED12: view
genes like me logo Genes that share phenotypes with MED12: view

Human Phenotype Ontology for MED12 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MED12 Gene

MGI Knock Outs for MED12:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MED12

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

Localization for MED12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MED12 Gene

Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MED12 gene
Compartment Confidence
nucleus 5
plasma membrane 3
cytoskeleton 3
extracellular 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
cytosol 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MED12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000151 ubiquitin ligase complex IEA --
GO:0005634 nucleus IBA,IDA 10235267
GO:0005654 nucleoplasm TAS --
GO:0016020 membrane HDA 19946888
GO:0016592 mediator complex IEA,IDA 10198638
genes like me logo Genes that share ontologies with MED12: view

Pathways & Interactions for MED12 Gene

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

Pathways by source for MED12 Gene

1 KEGG pathway for MED12 Gene
1 GeneGo (Thomson Reuters) pathway for MED12 Gene
  • Transcription Ligand-Dependent Transcription of Retinoid-Target genes
1 Cell Signaling Technology pathway for MED12 Gene

SIGNOR curated interactions for MED12 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for MED12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001756 somitogenesis IEA --
GO:0001843 neural tube closure IEA --
GO:0006357 regulation of transcription by RNA polymerase II IEA,IBA 21873635
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
GO:0007492 endoderm development IEA --
genes like me logo Genes that share ontologies with MED12: view

Drugs & Compounds for MED12 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for MED12 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for MED12 Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MED12

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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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 ^
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SP4: - -
SP5: - -
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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
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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

Expression for MED12 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MED12 Gene

mRNA expression in normal human tissues for MED12 Gene
mRNA expression by GTEx for MED12 GenemRNA expression by BioGPS for MED12 Gene

Protein differential expression in normal tissues from HIPED for MED12 Gene

This gene is overexpressed in Breast (31.2) and Liver (9.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MED12 Gene



Protein tissue co-expression partners for MED12 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MED12

SOURCE GeneReport for Unigene cluster for MED12 Gene:

Hs.409226

mRNA Expression by UniProt/SwissProt for MED12 Gene:

Q93074-MED12_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for MED12 Gene

  • Nervous system(4.7)
  • Liver(4.4)
  • Bone marrow(4.4)
  • Muscle(3)
  • Skin(2.8)
  • Intestine(2.7)
  • Blood(2.5)
  • Kidney(2.4)
  • Thyroid gland(2.3)
  • Heart(2.2)
  • Adrenal gland(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MED12 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • salivary gland
  • skull
  • tongue
  • tooth
  • vocal cord
Thorax:
  • aorta
  • chest wall
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • sternum
Abdomen:
  • abdominal wall
  • biliary tract
  • duodenum
  • intestine
  • large intestine
  • pancreas
  • small intestine
  • stomach
Pelvis:
  • anus
  • pelvis
  • penis
  • rectum
  • testicle
  • urethra
  • urinary bladder
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns 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 30 31
  • 99.38 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia MED12 30 31
  • 93.53 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia MED12 30 31
  • 93.49 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Med12 30
  • 91.32 (n)
Mouse
(Mus musculus)
 Mammalia Med12 30 17 31
  • 91.04 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia MED12 31
  • 89 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 69 (a)
 ManyToMany
Chicken
(Gallus gallus)
 Aves MED12 30 31
  • 76.12 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia MED12 31
  • 80 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia med12 30
  • 70.5 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.6099 30
Zebrafish
(Danio rerio)
 Actinopterygii med12 30 31
  • 71.17 (n)
 OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.5135 30
Fruit Fly
(Drosophila melanogaster)
 Insecta kto 31
  • 33 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea dpy-22 31
  • 11 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 39 (a)
 OneToMany
Species where no ortholog for MED12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for MED12: view image

Paralogs for MED12 Gene

Paralogs for MED12 Gene

(3) SIMAP similar genes for MED12 Gene using alignment to 4 proteins:

  • MED12_HUMAN
  • H7C191_HUMAN
  • H7C274_HUMAN
  • Q7Z3Z5_HUMAN

Pseudogenes.org Pseudogenes for MED12 Gene

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

Variants for MED12 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MED12 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
620067 Uncertain Significance: Ohdo syndrome, X-linked; FG syndrome 1; X-linked mental retardation with marfanoid habitus syndrome 71,135,244(+) CAAG/C INFRAME_DELETION
638932 Uncertain Significance: FG syndrome 1 71,132,184(+) A/G MISSENSE_VARIANT
639003 Uncertain Significance: FG syndrome 1 71,121,144(+) A/C MISSENSE_VARIANT
639131 Uncertain Significance: FG syndrome 1 71,126,063(+) G/A MISSENSE_VARIANT
639820 Uncertain Significance: FG syndrome 1 71,125,674(+) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for MED12 Gene

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
esv3576923 CNV gain 25503493

Variation tolerance for MED12 Gene

Residual Variation Intolerance Score: 0.74% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.62; 31.19% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MED12 Gene

Human Gene Mutation Database (HGMD)
MED12
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MED12

SNP Genotyping and Copy Number Assay Products

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

Disorders for MED12 Gene

MalaCards: The human disease database

(49) MalaCards diseases for MED12 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search MED12 in MalaCards View complete list of genes associated with diseases

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.

Additional Disease Information for MED12

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with MED12: view

No data available for Genatlas for MED12 Gene

Publications for MED12 Gene

  1. The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene. (PMID: 17369503) Schwartz CE … Stevenson RE (Journal of medical genetics 2007) 3 4 23
  2. A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. (PMID: 17334363) Risheg H … Friez MJ (Nature genetics 2007) 2 3 4
  3. 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 CC … Chen CH (Psychiatry research 2003) 3 23 41
  4. Association studies of the HOPA dodecamer duplication variant in different subtypes of autism. (PMID: 11840515) Beyer KS … Poustka A (American journal of medical genetics 2002) 3 23 41
  5. The association of a HOPA polymorphism with major depression and phobia. (PMID: 12216017) Philibert R … Cadoret RJ (Comprehensive psychiatry 2002) 3 23 41

ExternalLinks

View latest publications for MED12 gene in Mastermind

Products for MED12 Gene

  • Addgene plasmids for MED12
  • Signalway ELISA kits for MED12

Sources for MED12 Gene