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Aliases for MED12 Gene

Aliases for MED12 Gene

  • Mediator Complex Subunit 12 2 3 4 5
  • 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
  • TRAP230 3 4
  • TNRC11 3 4
  • ARC240 3 4
  • CAGH45 3 4
  • HOPA 3 4
  • 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
  • KIAA0192 4
  • MED12S 3
  • OHDOX 3
  • OPA1 3
  • FGS1 3
  • OKS 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 lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) 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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MED12 Gene

Genomics for MED12 Gene

Regulatory Elements for MED12 Gene

Enhancers for MED12 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XG071095 1.5 Ensembl ENCODE dbSUPER 25.3 -21.0 -20954 5.0 CREB3L1 ZNF2 ETS1 TCF12 ZNF121 GLIS2 GATA2 ZNF143 ZNF263 SP3 MED12 CXorf65 SNX12 IL2RG FOXO4
GH0XG071100 1.5 Ensembl ENCODE dbSUPER 15.7 -11.0 -11021 13.4 HDGF PKNOX1 ATF1 ARNT WRNIP1 ZFP64 TCF12 ZNF121 ELK1 ZNF207 MED12 CXorf65 SNX12 IL2RG
GH0XG071117 0.9 ENCODE 16.5 +0.2 182 2.6 TBP RB1 NFRKB WRNIP1 ARID4B DEAF1 DMAP1 YY1 THAP11 SP3 MED12 IL2RG TAF1 GC0XP071138
GH0XG071074 0.9 Ensembl ENCODE 12.6 -45.2 -45171 0.4 RFX1 HLF MAX CEBPB CEBPG EP300 ZNF148 CEBPA STAT3 MAFK IL2RG MED12 CXorf65 RNU1-56P NUTF2P7 SNX12 GC0XM071059
GH0XG071300 1 Ensembl ENCODE 11.1 +183.4 183402 2.0 FOXA2 JUN YY1 FOSL1 POLR2A PATZ1 HNF4G FOS PAF1 FOXA3 ZMYM3 ENSG00000228427 TAF1 MED12 IL2RG ITGB1BP2 LOC100131556
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MED12 on UCSC Golden Path with GeneCards custom track

Promoters for MED12 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000247106 144 1801 TBP NFRKB WRNIP1 ARID4B DEAF1 DMAP1 YY1 THAP11 SP3 SMAD5

Genomic Location for MED12 Gene

Chromosome:
X
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

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 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

Post-translational modifications for MED12 Gene

  • Ubiquitination at posLast=8080, Lys443, posLast=762762, Lys780, Lys785, posLast=814814, posLast=10011001, posLast=11941194, posLast=12981298, Lys1434, Lys1664, and posLast=16741674
  • Modification sites at PhosphoSitePlus

Other Protein References for MED12 Gene

No data available for DME Specific Peptides for MED12 Gene

Domains & Families for MED12 Gene

Protein Domains for MED12 Gene

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

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 IEA,IDA 10198638
GO:0001105 RNA polymerase II transcription coactivator activity IBA --
GO:0001190 transcriptional activator activity, RNA polymerase II transcription factor binding IEA --
GO:0003682 chromatin binding IEA --
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

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for MED12

Flow Cytometry Products

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

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 2
cytosol 1

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 IEA,IDA 10235267
GO:0005654 nucleoplasm TAS --
GO:0016020 membrane IDA 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

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:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription from RNA polymerase II promoter IEA --
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:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for MED12

Flow Cytometry Products

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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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: -
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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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, PaxDb, MaxQB, and MOPED for MED12 Gene



Protein tissue co-expression partners for MED12 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MED12 Gene:

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)
  • Bone marrow(4.2)
  • Liver(4.2)
  • Muscle(2.7)

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
Organs:
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

Primer Products

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 34 35
  • 99.38 (n)
cow
(Bos Taurus)
Mammalia MED12 34 35
  • 93.53 (n)
dog
(Canis familiaris)
Mammalia MED12 34 35
  • 93.49 (n)
rat
(Rattus norvegicus)
Mammalia Med12 34
  • 91.32 (n)
mouse
(Mus musculus)
Mammalia Med12 34 16 35
  • 91.04 (n)
oppossum
(Monodelphis domestica)
Mammalia MED12 35
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 69 (a)
ManyToMany
chicken
(Gallus gallus)
Aves MED12 34 35
  • 76.12 (n)
lizard
(Anolis carolinensis)
Reptilia MED12 35
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia med12 34
  • 70.5 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.6099 34
zebrafish
(Danio rerio)
Actinopterygii med12 34 35
  • 71.17 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5135 34
fruit fly
(Drosophila melanogaster)
Insecta kto 35
  • 33 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea dpy-22 35
  • 11 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 39 (a)
OneToMany
Species where no ortholog for MED12 was found in the sources mined by GeneCards:
  • 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

(3) 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
rs387907360 Pathogenic, Ohdo syndrome, X-linked (OHDOX) [MIM:300895] 71,128,686(+) GATTC(A/G)CTGTG reference, missense
rs387907361 Pathogenic, Ohdo syndrome, X-linked (OHDOX) [MIM:300895] 71,129,131(+) AGGAC(C/T)CTGAG reference, missense
rs387907362 Pathogenic, Ohdo syndrome, X-linked (OHDOX) [MIM:300895] 71,136,440(+) ACACA(A/C)ACCTG reference, missense
rs80338758 Pathogenic, Opitz-Kaveggia syndrome (OKS) [MIM:305450] 71,127,367(+) TGAAC(C/T)GGTCC reference, missense
rs80338759 Pathogenic, Lujan-Fryns syndrome (LUJFRYS) [MIM:309520] 71,127,931(+) CTGCA(A/G)CGTGG reference, missense

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)

Relevant External Links for MED12 Gene

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

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

Disorders for MED12 Gene

MalaCards: The human disease database

(26) MalaCards diseases for MED12 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
opitz-kaveggia syndrome
  • fg syndrome type 1
ohdo syndrome, x-linked
  • blepharophimosis-intellectual disability syndrome, mkb type
lujan-fryns syndrome
  • x-linked mental retardation with marfanoid habitus
med12-related disorders
lujan syndrome
  • marfanoid habitus, mild general hypotonia, hypernasal voice, normal testicular size and distinct craniofacial anomalies
- 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
  • 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.
  • 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.

Relevant External Links for MED12

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

No data available for Genatlas for MED12 Gene

Publications for MED12 Gene

  1. A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. (PMID: 17334363) Risheg H. … Friez M.J. (Nat. Genet. 2007) 2 3 4 64
  2. 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 22 64
  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 C.C. … Chen C.H. (Psychiatry Res 2003) 3 22 46 64
  4. 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 22 46 64
  5. The association of a HOPA polymorphism with major depression and phobia. (PMID: 12216017) Philibert R. … Cadoret R.J. (Compr Psychiatry 2002) 3 22 46 64

Products for MED12 Gene

Sources for MED12 Gene

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