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The protein encoded by this gene is a subunit of the Mediator complex, a large complex of proteins that functions as a transcriptional coactivator for most RNA polymerase II-transcribed genes. The encoded protein is involved in early development of the heart and brain. Defects in this gene are a cause of transposition of the great arteries, dextro-looped (DTGA).[provided by RefSeq, Jul 2010]
MED13L (Mediator Complex Subunit 13L) is a Protein Coding gene. Diseases associated with MED13L include Mental Retardation And Distinctive Facial Features With Or Without Cardiac Defects and Transposition Of The Great Arteries, Dextro-Looped 1. Among its related pathways are Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) and Thyroid hormone signaling pathway. An important paralog of this gene is MED13.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003712 | transcription coregulator activity | IEA,IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0016592 | mediator complex | IEA,IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) | ||
2 | Metabolism |
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3 | Thyroid hormone signaling pathway | ||
4 | Developmental Biology |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006357 | regulation of transcription by RNA polymerase II | IEA,IBA | 21873635 |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22a | · | 22b | ^ | 23a | · | 23b | · | 23c | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: |
ExUns: | 23d | ^ | 24a | · | 24b | · | 24c | ^ | 25a | · | 25b | · | 25c | ^ | 26a | · | 26b | · | 26c | ^ | 27a | · | 27b | ^ | 28a | · | 28b | ^ | 29 | ^ | 30 | ^ | 31 | ^ | 32 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | ||||||||||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||||
SP5: | - | ||||||||||||||||||||||||||||||||||
SP6: | - | ||||||||||||||||||||||||||||||||||
SP7: | - | ||||||||||||||||||||||||||||||||||
SP8: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MED13L 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MED13L 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MED13L 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Med13l 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Med13l 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | MED13L 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | MED13L 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | MED13L 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | MED13L 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | med13l 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | skd 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | let-19 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
638489 | Uncertain Significance: Mental retardation and distinctive facial features with or without cardiac defects | 115,991,436(-) | C/A | MISSENSE_VARIANT | |
640132 | Uncertain Significance: Transposition of the great arteries, dextro-looped 1 | 115,982,397(-) | G/A | MISSENSE_VARIANT | |
642696 | Uncertain Significance: Transposition of the great arteries, dextro-looped 1 | 115,961,328(-) | A/AG | FRAMESHIFT_VARIANT | |
642813 | Uncertain Significance: Transposition of the great arteries, dextro-looped 1 | 116,012,817(-) | T/G | MISSENSE_VARIANT | |
643671 | Uncertain Significance: Transposition of the great arteries, dextro-looped 1 | 115,966,158(-) | G/A | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv2891n54 | CNV | loss | 21841781 |
dgv2892n54 | CNV | gain+loss | 21841781 |
dgv875n106 | CNV | deletion | 24896259 |
esv21461 | CNV | loss | 19812545 |
esv2677842 | CNV | deletion | 23128226 |
esv29009 | CNV | loss | 19812545 |
esv3580482 | CNV | loss | 25503493 |
esv3630844 | CNV | loss | 21293372 |
esv3630845 | CNV | loss | 21293372 |
esv3630846 | CNV | loss | 21293372 |
esv3630847 | CNV | loss | 21293372 |
nsv1070554 | CNV | deletion | 25765185 |
nsv1119991 | CNV | deletion | 24896259 |
nsv476833 | CNV | novel sequence insertion | 20440878 |
nsv52565 | CNV | insertion | 16902084 |
nsv560308 | CNV | loss | 21841781 |
nsv560311 | CNV | loss | 21841781 |
nsv560312 | CNV | loss | 21841781 |
nsv560313 | CNV | gain | 21841781 |
nsv826519 | CNV | gain | 20364138 |
nsv832522 | CNV | loss | 17160897 |
nsv952488 | CNV | duplication | 24416366 |
nsv952489 | CNV | duplication | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
mental retardation and distinctive facial features with or without cardiac defects |
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transposition of the great arteries, dextro-looped 1 |
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metatarsus adductus |
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pierre robin syndrome |
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isolated pierre robin sequence |
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