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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]
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.
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 |
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 |
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
|
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 |
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 |
|
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
intellectual developmental disorder 61 |
|
|
non-specific syndromic intellectual disability |
|
|
opitz-kaveggia syndrome |
|
|
amyotrophic lateral sclerosis 1 |
|
|