Free for academic non-profit institutions. Other users need a Commercial license
This gene encodes a component of the mediator complex (also known as TRAP, SMCC, DRIP, or ARC), a transcriptional coactivator complex thought to be required for the expression of almost all genes. The mediator complex is recruited by transcriptional activators or nuclear receptors to induce gene expression, possibly by interacting with RNA polymerase II and promoting the format... See more...
Aliases for MED13 Gene
Aliases for MED13 Gene
- Mediator Complex Subunit 13 2 3 4 5
- TRAP240 2 3 4
- Thyroid Hormone Receptor-Associated Protein Complex 240 KDa Component 3 4
- Vitamin D3 Receptor-Interacting Protein Complex Component DRIP250 3 4
- Mediator Of RNA Polymerase II Transcription Subunit 13 3 4
- Activator-Recruited Cofactor 250 KDa Component 3 4
- Thyroid Hormone Receptor-Associated Protein 1 3 4
- KIAA0593 2 4
- DRIP250 3 4
- ARC250 3 4
- THRAP1 3 4
- Thyroid Hormone Receptor-Associated Protein Complex Component TRAP240 3
- Mediator Of RNA Polymerase II Transcription, Subunit 13 Homolog 3
- Thyroid Hormone Receptor-Associated Protein, 240 KDa Subunit 3
- Thyroid Hormone Receptor Associated Protein 1 2
- HSPC221 3
- Trap240 4
- MRD61 3
- MED13 5
External Ids for MED13 Gene
- HGNC: 22474
- Entrez Gene: 9969
- Ensembl: ENSG00000108510
- OMIM: 603808
- UniProtKB: Q9UHV7
Previous HGNC Symbols for MED13 Gene
- THRAP1
Previous GeneCards Identifiers for MED13 Gene
- GC17M057374
- GC17M060019
- GC17M055388
Summaries for MED13 Gene
-
This gene encodes a component of the mediator complex (also known as TRAP, SMCC, DRIP, or ARC), a transcriptional coactivator complex thought to be required for the expression of almost all genes. The mediator complex is recruited by transcriptional activators or nuclear receptors to induce gene expression, possibly by interacting with RNA polymerase II and promoting the formation of a transcriptional pre-initiation complex. The product of this gene is proposed to form a sub-complex with MED12, cyclin C, and CDK8 that can negatively regulate transactivation by mediator. [provided by RefSeq, Jul 2008]
GeneCards Summary for MED13 Gene
MED13 (Mediator Complex Subunit 13) is a Protein Coding gene. Diseases associated with MED13 include Intellectual Developmental Disorder 61 and Non-Specific Syndromic Intellectual Disability. Among its related pathways are Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) and Thyroid hormone signaling pathway. Gene Ontology (GO) annotations related to this gene include transcription coregulator activity. An important paralog of this gene is MED13L.
UniProtKB/Swiss-Prot Summary for MED13 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.
Additional gene information for MED13 Gene
- HGNC(22474)
- Entrez Gene(9969)
- Ensembl(ENSG00000108510)
- OMIM(603808)
- UniProtKB(Q9UHV7)
- Open Targets Platform(ENSG00000108510)
- Search for MED13 at DataMed
- Search for MED13 at HumanCyc
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MED13 Gene
Genomics for MED13 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for MED13 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 MED13 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MED13
- Top Transcription factor binding sites by QIAGEN in the MED13 gene promoter:
-
- AML1a
- ATF-2
- CRE-BP1
- E47
- Lmo2
- Meis-1
- Meis-1a
- Meis-1b
- Pax-3
- RSRFC4
Genomic Locations for MED13 Gene
Genomic Locations for MED13 Gene
- chr17:61,942,605-62,065,983
- (GRCh38/hg38)
- Size:
- 123,379 bases
- Orientation:
- Minus strand
- chr17:60,019,966-60,142,643
- (GRCh37/hg19)
- Size:
- 122,678 bases
- Orientation:
- Minus strand
Genomic View for MED13 Gene
Genes around MED13 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 17q23.2 by HGNC
- 17q23.2 by Entrez Gene
- 17q23.2 by Ensembl
MED13 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 MED13 Gene
Proteins for MED13 Gene
-
Protein details for MED13 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9UHV7-MED13_HUMAN
- Recommended name:
- Mediator of RNA polymerase II transcription subunit 13
- Protein Accession:
- Q9UHV7
- B2RU05
- O60334
Protein attributes for MED13 Gene
- Size:
- 2174 amino acids
- Molecular mass:
- 239297 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.
- SequenceCaution:
-
- Sequence=AAD22032.1; Type=Frameshift; Evidence={ECO:0000305};
Protein Expression for MED13 Gene
Post-translational modifications for MED13 Gene
Other Protein References for MED13 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Creative Diagnostics Anti-MED13 (aa 325-375) polyclonal antibody
- Creative Biolabs Mouse Anti-MED13 Recombinant Antibody (CBYJT-1462)
- Novus Biologicals Antibodies for MED13
-
Abcam antibodies for MED13
- Invitrogen Antibodies for MED13 (AFLGC-MED13)
-
Santa Cruz Biotechnology (SCBT) Antibodies for MED13
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for MED13
- Origene Custom Protein Services for MED13
- Novus Biologicals proteins for MED13
-
Abcam proteins for MED13
Assay Products
-
Signalway ELISA kits for MED13
No data available for DME Specific Peptides for MED13 Gene
Domains & Families for MED13 Gene
Gene Families for MED13 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Predicted intracellular proteins
Protein Domains for MED13 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for MED13 Gene
- GenScript: Design optimal peptide antigens:
-
- Vitamin D3 receptor-interacting protein complex component DRIP250 (MED13_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9UHV7- Family:
-
- Belongs to the Mediator complex subunit 13 family.
Function for MED13 Gene
Molecular function for MED13 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.
Phenotypes From GWAS Catalog for MED13 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003712 | transcription coregulator activity | IDA | 10198638 |
| GO:0003713 | transcription coactivator activity | IDA | -- |
| GO:0030374 | nuclear receptor transcription coactivator activity | NAS | 10235266 |
| GO:0042809 | vitamin D receptor binding | NAS | 10235266 |
| GO:0046966 | thyroid hormone receptor binding | IDA | 10198638 |
Phenotypes for MED13 Gene
- MGI mutant phenotypes for MED13:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for MED13:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for MED13 - Select products 50% OFF >
- * MED13 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for MED13
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MED13
-
Santa Cruz Biotechnology (SCBT) CRISPR for MED13
miRNA for MED13 Gene
- miRTarBase miRNAs that target MED13
-
- hsa-miR-208a-3p (MIRT003912)
- mmu-miR-340-5p (MIRT010720)
- hsa-miR-151a-3p (MIRT019505)
- hsa-miR-103a-3p (MIRT027154)
- hsa-miR-16-5p (MIRT031923)
- hsa-miR-1303 (MIRT035880)
- hsa-miR-30c-5p (MIRT047970)
- hsa-miR-196a-5p (MIRT048177)
- hsa-miR-17-5p (MIRT050942)
- hsa-let-7b-5p (MIRT052192)
- hsa-miR-141-3p (MIRT078340)
- hsa-miR-200a-3p (MIRT078341)
- hsa-miR-495-3p (MIRT078342)
- hsa-miR-5688 (MIRT078346)
- hsa-miR-27a-3p (MIRT197755)
- hsa-miR-27b-3p (MIRT197757)
- hsa-miR-5580-3p (MIRT197788)
- hsa-miR-8084 (MIRT234566)
- hsa-miR-6831-3p (MIRT406383)
- hsa-miR-205-5p (MIRT440259)
- hsa-miR-5585-5p (MIRT501894)
- hsa-miR-548ax (MIRT501895)
- hsa-miR-548ao-5p (MIRT501896)
- hsa-miR-6811-5p (MIRT501897)
- hsa-miR-6511b-5p (MIRT501898)
- hsa-miR-5585-3p (MIRT501899)
- hsa-miR-4708-5p (MIRT501900)
- hsa-miR-1253 (MIRT501901)
- hsa-miR-153-5p (MIRT501902)
- hsa-miR-95-5p (MIRT501903)
- hsa-miR-5197-3p (MIRT501904)
- hsa-miR-338-5p (MIRT501905)
- hsa-miR-5692a (MIRT501906)
- hsa-miR-3591-5p (MIRT535997)
- hsa-miR-4460 (MIRT535998)
- hsa-miR-4727-3p (MIRT535999)
- hsa-miR-4775 (MIRT536000)
- hsa-miR-7160-5p (MIRT536001)
- hsa-miR-3605-5p (MIRT536002)
- hsa-miR-3679-5p (MIRT536003)
- hsa-miR-1185-5p (MIRT536004)
- hsa-miR-27b-5p (MIRT536005)
- hsa-miR-6718-5p (MIRT536006)
- hsa-miR-203b-5p (MIRT536007)
- hsa-miR-590-3p (MIRT536008)
- hsa-miR-562 (MIRT536009)
- hsa-miR-140-5p (MIRT536010)
- hsa-miR-568 (MIRT547439)
- hsa-miR-4477a (MIRT547440)
- hsa-miR-3163 (MIRT547441)
- hsa-miR-595 (MIRT547442)
- hsa-miR-224-5p (MIRT547443)
- mmu-miR-5101 (MIRT582477)
- mmu-miR-129-5p (MIRT582478)
- mmu-miR-335-3p (MIRT582479)
- hsa-miR-4783-5p (MIRT609936)
- hsa-miR-362-3p (MIRT609937)
- hsa-miR-329-3p (MIRT609938)
- hsa-miR-8485 (MIRT609939)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MED13
- Browse OriGene Inhibitory RNA Products For MED13
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MED13
Clone Products
- Applied Biological Materials (abm): Clones for MED13 - Select products 50% OFF >
- * MED13 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for MED13
- Addgene plasmids for MED13
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MED13
Cell Line Products
-
Horizon Cell Lines for MED13
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MED13 Gene
Localization for MED13 Gene
Subcellular locations from UniProtKB/Swiss-Prot for MED13 Gene
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| endoplasmic reticulum | 2 |
| cytosol | 2 |
| plasma membrane | 1 |
| extracellular | 1 |
| peroxisome | 1 |
- Nucleoplasm (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA,IDA | 10235267 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0016020 | membrane | HDA | 19946888 |
| GO:0016592 | mediator complex | IBA,IDA | 10198638 |
Pathways & Interactions for MED13 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) | ||
| 2 | Gene Expression |
.48
|
|
| 3 | Metabolism |
.40
|
|
| 4 | Thyroid hormone signaling pathway | ||
| 5 | PEDF Induced Signaling |
Glucocorticoid Receptor Signaling
.43
|
|
Pathways by source for MED13 Gene
9 Reactome pathways for MED13 Gene
1 KEGG pathway for MED13 Gene
1 GeneGo (Thomson Reuters) pathway for MED13 Gene
- Transcription Ligand-Dependent Transcription of Retinoid-Target genes
1 Qiagen pathway for MED13 Gene
- Glucocorticoid Receptor Signaling
Interacting Proteins for MED13 Gene
Selected Interacting proteins:
Q9UHV7-MED13_HUMAN
ENSP00000380888
for MED13 Gene via
MINT
STRING
IID
GPS-Prot Interaction Network for MED13
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006357 | regulation of transcription by RNA polymerase II | IBA | 21873635 |
| GO:0006367 | transcription initiation from RNA polymerase II promoter | TAS | -- |
| GO:0042632 | cholesterol homeostasis | IEA | -- |
| GO:0043433 | negative regulation of DNA-binding transcription factor activity | IEA | -- |
| GO:0045893 | positive regulation of transcription, DNA-templated | IDA | 10198638 |
No data available for SIGNOR curated interactions for MED13 Gene
Transcripts for MED13 Gene
mRNA/cDNA for MED13 Gene
- 1 REFSEQ mRNAs :
- 9 NCBI additional mRNA sequence :
- 6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000397786 10461 nts (view in UCSC)
- ENST00000578132 751 nts (view in UCSC)
- ENST00000580896 251 nts (view in UCSC)
- ENST00000581994 2213 nts (view in UCSC)
- ENST00000582786 341 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for MED13 - Select products 50% OFF >
- * MED13 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for MED13
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MED13
-
Santa Cruz Biotechnology (SCBT) CRISPR for MED13
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MED13
- Browse OriGene Inhibitory RNA Products For MED13
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MED13
Clone Products
- Applied Biological Materials (abm): Clones for MED13 - Select products 50% OFF >
- * MED13 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for MED13
- Addgene plasmids for MED13
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MED13
Relevant External Links for MED13 Gene
- GeneLoc Exon Structure for
- MED13
Expression for MED13 Gene
This gene is overexpressed in Placenta (27.4), Blymphocyte (25.2), and CD8 Tcells (13.3).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MED13 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MED13
SOURCE GeneReport for Unigene cluster for MED13 Gene:
Hs.282678mRNA Expression by UniProt/SwissProt for MED13 Gene:
Q9UHV7-MED13_HUMAN
Tissue specificity:
Ubiquitous.
Evidence on tissue expression from TISSUES for MED13 Gene
- Nervous system(4.6)
- Liver(4.5)
- Muscle(2.8)
- Heart(2.8)
- Thyroid gland(2.6)
- Kidney(2.2)
- Blood(2.2)
- Skin(2.1)
- Spleen(2)
- Intestine(2)
Primer Products
-
OriGene qPCR primer pairs for MED13
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for MED13 Gene
Orthologs for MED13 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | MED13 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | MED13 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | MED13 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Med13 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Med13 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | MED13 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | MED13 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | MED13 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | med13 30 |
|
||
| Str.10799 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.10542 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | med13a 30 31 |
|
OneToMany | |
| med13b 31 |
|
OneToMany | |||
| Dr.13644 30 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | skd 30 31 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | let-19 31 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.2069 30 |
|
- Species where no ortholog for MED13 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)
- Rainbow Trout (Oncorhynchus mykiss)
- 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 MED13 Gene
- ENSEMBL:
- Gene Tree for MED13 (if available)
- TreeFam:
- Gene Tree for MED13 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for MED13: view image
Paralogs for MED13 Gene
(1) SIMAP similar genes for MED13 Gene using alignment to 2 proteins:
- MED13_HUMAN
- J3QRB7_HUMAN
Pseudogenes.org Pseudogenes for MED13 Gene
Variants for MED13 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MED13 Gene
| SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 710115 | Benign: not provided | 61,961,088(-) | T/C | SYNONYMOUS_VARIANT | |
| 710116 | Benign: not provided | 61,965,407(-) | G/A | SYNONYMOUS_VARIANT | |
| 711077 | Likely Benign: not provided | 62,063,253(-) | T/C | MISSENSE_VARIANT | |
| 712855 | Benign: not provided | 62,063,085(-) | T/C | MISSENSE_VARIANT | |
| 722968 | Benign: not provided | 61,962,872(-) | T/A | SYNONYMOUS_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3640960 | CNV | loss | 21293372 |
| nsv1109098 | CNV | deletion | 24896259 |
| nsv112179 | CNV | deletion | 16902084 |
| nsv1138564 | CNV | deletion | 24896259 |
Residual Variation Intolerance Score:
0.849% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
3.95;
59.77% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for MED13 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MED13 Gene
Disorders for MED13 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| intellectual developmental disorder 61 |
|
|
| non-specific syndromic intellectual disability |
|
|
| opitz-kaveggia syndrome |
|
|
| amyotrophic lateral sclerosis 1 |
|
|
Search MED13 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for MED13
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for MED13 Gene
Publications for MED13 Gene
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
- The variant rs1867277 in FOXE1 gene confers thyroid cancer susceptibility through the recruitment of USF1/USF2 transcription factors. (PMID: 19730683) Landa I … Robledo M (PLoS genetics 2009) 3 41
- MED1/TRAP220 exists predominantly in a TRAP/ Mediator subpopulation enriched in RNA polymerase II and is required for ER-mediated transcription. (PMID: 15989967) Zhang X … Roeder RG (Molecular cell 2005) 3 4
- A set of consensus mammalian mediator subunits identified by multidimensional protein identification technology. (PMID: 15175163) Sato S … Conaway RC (Molecular cell 2004) 3 4
- Composite co-activator ARC mediates chromatin-directed transcriptional activation. (PMID: 10235267) Näär AM … Tjian R (Nature 1999) 3 4
ExternalLinks
Products for MED13 Gene
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for MED13
- Origene Custom Protein Services for MED13
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MED13
- Browse OriGene Inhibitory RNA Products For MED13
- OriGene qPCR primer pairs for MED13
- OriGene CRISPR knockouts for MED13
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For MED13
- Sino Biological Human cDNA Clone for MED13
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for MED13
- Novus Biologicals proteins for MED13
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for MED13
- Abcam proteins for MED13
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Invitrogen Antibodies for MED13 (AFLGC-MED13)
- VectorBuilder Custom and pre-made DNA vectors for MED13 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for MED13 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for MED13 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for MED13 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for MED13
- Addgene plasmids for MED13
- antibodies-online: Show 5 available MED13 Antibodies ranked by validation data
- Compare Top MED13 Antibodies
- antibodies-online: Show 11 available MED13 Elisa Kits ranked by validation data
- Compare Top MED13 Elisa Kits
- antibodies-online: Search results for available MED13 related products ranked by validation data
- Santa Cruz Biotechnology (SCBT) Antibodies for MED13
- Search Santa Cruz Biotechnology (SCBT) for MED13 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for MED13
- Horizon Cell Lines for MED13
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MED13
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MED13
- Search GeneCopoeia for miRNA 3'UTR Target clone products for MED13
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MED13
- Signalway ELISA kits for MED13
Sources for MED13 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB