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
- Trap230 4
- MED12S 3
- OHDOX 3
- OPA1 3
- FGS1 3
- OKS 3
External Ids for MED12 Gene
- HGNC: 11957
- Entrez Gene: 9968
- Ensembl: ENSG00000184634
- OMIM: 300188
- UniProtKB: Q93074
Previous HGNC Symbols for MED12 Gene
- TNRC11
- FGS1
Previous GeneCards Identifiers for MED12 Gene
- GC0XP070122
- GC0XP070256
- GC0XP070338
- GC0XP064157
Summaries 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 Gene Expression and Metabolism. Gene Ontology (GO) annotations related to this gene include chromatin binding. 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.
Additional gene information for MED12 Gene
- Monarch Initiative
- Search for MED12 at DataMed
- Search for MED12 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MED12 Gene
Genomics for MED12 Gene
GeneHancer (GH) Regulatory Elements for MED12 Gene
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 UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the MED12 gene promoter:
-
- Nkx2-5
- GR-beta
- GR-alpha
- GR
- HOXA5
- IRF-7A
- Evi-1
- NRSF form 1
- NRSF form 2
- FOXO3
Regulatory Element Products
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:
-
- Xq13.1 by Entrez Gene
- Xq13.1 by HGNC
- Xq13.1 by Ensembl
MED12 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression for MED12 Gene
Post-translational modifications for MED12 Gene
Other Protein References for MED12 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for MED12
-
Abcam antibodies for MED12
- Invitrogen Antibodies for MED12 (AFLGC-MED12)
- GeneTex MED12 Antibody for MED12
-
Santa Cruz Biotechnology (SCBT) Antibodies for MED12
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for MED12
- Origene Custom Protein Services for MED12
- Novus Biologicals proteins for MED12
- Search GeneTex for Proteins for MED12
-
Abcam proteins for MED12
Assay Products
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:
Graphical View of Domain Structure for InterPro Entry
Q93074- Family:
-
- Belongs to the Mediator complex subunit 12 family.
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.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000980 | RNA polymerase II distal enhancer sequence-specific DNA binding | IEA | -- |
| GO:0001190 | transcriptional activator activity, RNA polymerase II transcription factor binding | IEA | -- |
| GO:0003682 | chromatin binding | IEA | -- |
| GO:0003712 | transcription coregulator activity | IDA | 12218053 |
| GO:0003713 | transcription coactivator activity | IDA | 12037571 |
Phenotypes for MED12 Gene
- MGI mutant phenotypes for MED12:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for MED12:
-
- Increased shRNA abundance (Z-score > 2)
- Decreased shRNA abundance (Z-score < -2)
- Increased G1 DNA content
- Decreased NANOG protein expression
- Decreased POU5F1-GFP protein expression
- Decreased OCT4 protein expression
- Dynamic nuclei (hole, folded or small irregular)
- Decreased viability in esophageal squamous lineage
- Increased Nanog expression
- Increased shRNA abundance with PLX4720
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Upregulation of RLR pathway after Sendai virus (SeV) infection
- Decreased human papilloma virus 16 (HPV16) pseudovirus infection
- Decreased NF-kappaB reporter expression
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection after direct virus infection
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection after viral supernatant infection
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection
- shRNA abundance <= 50%
Animal Models for MED12 Gene
- MGI Knock Outs for MED12:
-
- Med12 Med12<tm1.2Hsch>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for MED12
-
CRISPR Products
-
OriGene CRISPR knockouts for MED12
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MED12
- genomics-online: gRNA clones - Search results for 67 available MED12 gene related products
- Overview of 67 available MED12 gene related products
- Applied Biological Materials CRISPR for MED12
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for MED12
- GenScript: Design CRISPR guide RNA sequences for MED12
miRNA for MED12 Gene
- miRTarBase miRNAs that target MED12
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MED12
- Browse OriGene Inhibitory RNA Products For MED12
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MED12
- genomics-online: shRNA clones - Search results for 67 available MED12 gene related products
- Overview of 67 available MED12 gene related products
Clone Products
-
OriGene ORF clones in human for MED12
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for MED12
- Addgene plasmids for MED12
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MED12
- Applied Biological Materials Clones for MED12
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for MED12 Gene
Localization for MED12 Gene
Subcellular locations from UniProtKB/Swiss-Prot for MED12 Gene
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| plasma membrane | 3 |
| cytoskeleton | 2 |
| cytosol | 1 |
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000151 | ubiquitin ligase complex | IEA | -- |
| GO:0005634 | nucleus | IDA,IEA | 10235267 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0016020 | membrane | HDA | 19946888 |
| GO:0016592 | mediator complex | IEA,IDA | 10198638 |
Pathways & Interactions for MED12 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) | ||
| 2 | Gene Expression |
.48
|
|
| 3 | Metabolism |
.37
|
|
| 4 | Thyroid hormone signaling pathway | ||
| 5 | Chromatin Regulation / Acetylation | ||
Pathways by source for MED12 Gene
1 BioSystems pathway for MED12 Gene
9 Reactome pathways for MED12 Gene
1 KEGG pathway for MED12 Gene
1 GeneGo (Thomson Reuters) pathway for MED12 Gene
1 Cell Signaling Technology pathway for MED12 Gene
Interacting Proteins for MED12 Gene
Selected Interacting proteins:
Q93074-MED12_HUMAN
ENSP00000363193
for MED12 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for MED12
| 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 by RNA polymerase II | IEA,IBA | -- |
Transcripts for MED12 Gene
mRNA/cDNA for MED12 Gene
- (1) REFSEQ mRNAs :
- (7) Additional mRNA sequences :
- (128) Selected AceView cDNA sequences:
- (9) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000374102 6827 bps (uc004dyz.4)
- ENST00000374080 6795 bps (uc004dyy.4)
- ENST00000429213 389 bps (uc064ztt.1)
- ENST00000471663 439 bps (uc064ztu.1)
- ENST00000462984 631 bps (uc064ztv.1)
Unigene Clusters for MED12 Gene
- Mediator complex subunit 12:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for MED12
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MED12
- genomics-online: gRNA clones - Search results for 67 available MED12 gene related products
- Overview of 67 available MED12 gene related products
- Applied Biological Materials CRISPR for MED12
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for MED12
- GenScript: Design CRISPR guide RNA sequences for MED12
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MED12
- Browse OriGene Inhibitory RNA Products For MED12
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MED12
- genomics-online: shRNA clones - Search results for 67 available MED12 gene related products
- Overview of 67 available MED12 gene related products
Clone Products
-
OriGene ORF clones in human for MED12
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for MED12
- Addgene plasmids for MED12
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MED12
- Applied Biological Materials Clones for MED12
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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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Expression for MED12 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
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
NURSA nuclear receptor signaling pathways regulating expression of MED12 Gene:
MED12SOURCE GeneReport for Unigene cluster for MED12 Gene:
Hs.409226mRNA 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
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
Primer Products
-
OriGene qPCR primer pairs for MED12
- genomics-online: primer clones - Search results for 67 available MED12 gene related products
- Overview of 67 available MED12 gene related products
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | MED12 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | MED12 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | MED12 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Med12 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Med12 16 34 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | MED12 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
ManyToMany | |
| chicken (Gallus gallus) |
Aves | MED12 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | MED12 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | med12 33 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.6099 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | med12 34 33 |
|
OneToOne | |
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.5135 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | kto 34 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | dpy-22 34 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
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)
- Aminode:
- Evolutionary constrained regions (ECRs) for MED12: view image
Paralogs for MED12 Gene
Variants for MED12 Gene
| SNP ID | Clin | Chr 0X pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1057518921 | likely-pathogenic, Abnormal facial shape, Absent speech, Expressive language delay, Global developmental delay, Microcephaly, Seizures, Ventriculomegaly | 71,132,465(+) | G/A | coding_sequence_variant, missense_variant | |
| rs1057519381 | likely-pathogenic, FG syndrome | 71,124,276(+) | G/A | coding_sequence_variant, missense_variant | |
| rs1057519912 | likely-pathogenic, Adenocarcinoma of prostate, Squamous cell carcinoma of lung, Adenocarcinoma of stomach, Neoplasm of the breast, Pancreatic adenocarcinoma | 71,129,408(+) | C/G/T | coding_sequence_variant, missense_variant | |
| rs1060502167 | uncertain-significance, FG syndrome | 71,136,600(+) | G/A | coding_sequence_variant, missense_variant | |
| rs1060502168 | uncertain-significance, FG syndrome | 71,129,784(+) | C/T | coding_sequence_variant, missense_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv1584074 | OTHER | inversion | 17803354 |
| esv33082 | CNV | loss | 17666407 |
| esv3576923 | CNV | gain | 25503493 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MED12 Gene
Disorders for MED12 Gene
(30) MalaCards diseases for MED12 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| opitz-kaveggia syndrome |
|
|
| ohdo syndrome, x-linked |
|
|
| lujan-fryns syndrome |
|
|
| anus, imperforate |
|
|
| corpus callosum, agenesis of |
|
|
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
No data available for Genatlas for MED12 Gene
Publications for MED12 Gene
- 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 22 58
- A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. (PMID: 17334363) Risheg H … Friez MJ (Nature genetics 2007) 2 3 4 58
- 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 22 44 58
- 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 22 44 58
- The association of a HOPA polymorphism with major depression and phobia. (PMID: 12216017) Philibert R … Cadoret RJ (Comprehensive psychiatry 2002) 3 22 44 58
Products for MED12 Gene
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- Browse OriGene miRNA Products For MED12
- GenScript: Next-day shipping of latest version cDNA ORF clones for MED12 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for MED12
- GenScript Custom Assay Services for MED12
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- GenScript: Design CRISPR guide RNA sequences for MED12
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
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- Gene Mutant Library, Variants up to 10^11
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- Sino Biological Human cDNA Clone for MED12
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- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for MED12
- Novus Biologicals proteins for MED12
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
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- Abcam antibodies for MED12
- Abcam proteins for MED12
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- Browse Primary Antibodies
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- Invitrogen Antibodies for MED12 (AFLGC-MED12)
- Cyagen custom Knockout/knockin (KOKI) mouse models for MED12
- Addgene plasmids for MED12
- antibodies-online: Search results for 52 available MED12 Antibodies ranked by validation data
- Compare Top MED12 Antibodies
- antibodies-online: Search results for 11 available MED12 Elisa Kits ranked by validation data
- Compare Top MED12 Elisa Kits
- antibodies-online: Search results for available MED12 related products ranked by validation data
- GeneTex MED12 Antibody for MED12
- Search GeneTex for Proteins for MED12
- Santa Cruz Biotechnology (SCBT) Antibodies for MED12
- Search Santa Cruz Biotechnology (SCBT) for MED12 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for MED12
- genomics-online: cdna clones - Search results for 67 available MED12 gene related products
- Overview of 67 available MED12 gene related products
- orf clones - Search results for 67 available MED12 gene related products
- Overview of 67 available MED12 gene related products
- genomics-online: gRNA clones - Search results for 67 available MED12 gene related products
- Overview of 67 available MED12 gene related products
- genomics-online: primer clones - Search results for 67 available MED12 gene related products
- Overview of 67 available MED12 gene related products
- genomics-online: shRNA clones - Search results for 67 available MED12 gene related products
- Overview of 67 available MED12 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MED12
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MED12
- GeneCopoeia miRNA 3'UTR Target clone products for MED12
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MED12
Sources for MED12 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt