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This gene encodes a component of the transcriptional coactivator complex termed the Mediator complex. This complex is required for transcription of most RNA polymerase II-dependent genes. The encoded protein plays a role in chromatin modification and in preinitiation complex assembly. Mutations in this gene are associated with Charcot-Marie-Tooth disease type 2B2. [provided by RefSeq, Apr 2010]
MED25 (Mediator Complex Subunit 25) is a Protein Coding gene. Diseases associated with MED25 include Basel-Vanagaite-Smirin-Yosef Syndrome and Charcot-Marie-Tooth Disease, Axonal, Type 2B2. Among its related pathways are Developmental Biology and Gene Expression. Gene Ontology (GO) annotations related to this gene include transcription factor binding and retinoid X receptor binding. An important paralog of this gene is PTOV1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001223 | transcription coactivator binding | IPI | 17641689 |
GO:0005515 | protein binding | IPI | 17641689 |
GO:0008134 | transcription factor binding | IPI | 17641689 |
GO:0042974 | retinoic acid receptor binding | IPI | 17641689 |
GO:0046965 | retinoid X receptor binding | IPI | 17641689 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005667 | transcription factor complex | IBA | 21873635 |
GO:0016592 | mediator complex | IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) | ||
2 | Gene Expression |
.48
|
|
3 | Metabolism |
.40
|
|
4 | Developmental Biology |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IMP | 17641689 |
GO:0006367 | transcription initiation from RNA polymerase II promoter | TAS | -- |
GO:0035563 | positive regulation of chromatin binding | IMP | 17641689 |
GO:0045944 | positive regulation of transcription by RNA polymerase II | IBA,IDA | 17641689 |
GO:0048147 | negative regulation of fibroblast proliferation | IMP | 17641689 |
ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||||||||||
SP5: | - | ||||||||||||||||||||||||||||||||||||||||
SP6: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MED25 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MED25 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MED25 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Med25 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Med25 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | MED25 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | med25 30 |
|
||
Str.10861 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.4400 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | Dr.25087 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | MED25 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
839297 | Uncertain Significance: Charcot-Marie-Tooth disease, type 2 | 49,829,834(+) |
C/T NM_030973.4(MED25):c.574C>T (p.Arg192Trp) |
MISSENSE | |
840688 | Uncertain Significance: Charcot-Marie-Tooth disease, type 2 | 49,830,697(+) |
C/T NM_030973.4(MED25):c.911C>T (p.Ser304Leu) |
MISSENSE | |
841303 | Uncertain Significance: Charcot-Marie-Tooth disease; Charcot-Marie-Tooth disease, type 2 | 49,836,892(+) |
C/T NM_030973.4(MED25):c.2192C>T (p.Pro731Leu) |
MISSENSE_VARIANT,INTRON | |
841547 | Uncertain Significance: Charcot-Marie-Tooth disease, type 2 | 49,835,742(+) |
C/T NM_030973.4(MED25):c.1762C>T (p.Pro588Ser) |
MISSENSE | |
841790 | Uncertain Significance: Charcot-Marie-Tooth disease, type 2 | 49,818,348(+) |
CCCGGGTCCGAGGGCC
NM_030973.4(MED25):c.13_36del (p.Glu6_Ser13del) |
INFRAME_DELETION |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv53n68 | CNV | loss | 17160897 |
esv2659864 | CNV | deletion | 23128226 |
nsv1114025 | CNV | deletion | 24896259 |
nsv1140251 | OTHER | inversion | 24896259 |
nsv1160655 | CNV | deletion | 26073780 |
nsv470150 | CNV | gain | 18288195 |
nsv953600 | CNV | deletion | 24416366 |
nsv9739 | CNV | gain+loss | 18304495 |
Disorder | Aliases | PubMed IDs |
---|---|---|
basel-vanagaite-smirin-yosef syndrome |
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|
charcot-marie-tooth disease, axonal, type 2b2 |
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autosomal recessive non-syndromic intellectual disability |
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|
charcot-marie-tooth disease |
|
|
tooth disease |
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