EDK
Editome Disease Knowledgebase
MDM2
| Gene symbol | MDM2 |
|---|---|
| Aliases | HDMX; hdm2; ACTFS |
| Protein Name | E3 ubiquitin-protein ligase Mdm2 |
| Function | This gene encodes a nuclear-localized E3 ubiquitin ligase. The encoded protein can promote tumor formation by targeting tumor suppressor proteins, such as p53, for proteasomal degradation. |
| Species | Human |
| Editing Sites | 5 |
| Disease | Tumorigenesis; |
| Description | Abrogation of ADAR2 expression or catalytic activity elicited a MDM2- dependent suppression of apoptotic response, whereas ectopic expression reversed this protective effect on cell death. |
| RADR | RADAR |
| REDIportal | REDI portal |
| External links | (Uniport); (NM id); (NCBI gene id); GeneCard; GTEx |
| Sequence |
Editing sites
| Enzyme | Editing type | Region | NT Seq Position | Molecular Consequence | Editing Level | Tissue | Interaction | Editing Effect | Phenotype | Disease name | PMID |
|---|---|---|---|---|---|---|---|---|---|---|---|
|
A-to-I | 3'UTR | chr12:69237004 | protein products expression change | chr12:69237004 | HeLa, HepG2, WI38 and HEK293 cell lines | STAU1 | Exerts a negative regulation on the expression of MDM2 protein products | Edited MDM2 suppressed the MDM2-dependent apoptotic response | ||
|
A-to-I | 3'UTR | chr12:69237475 | protein products expression change | chr12:69237475 | HeLa, HepG2, WI38 and HEK293 cell lines | STAU1 | Exerts a negative regulation on the expression of MDM2 protein products | Edited MDM2 suppressed the MDM2-dependent apoptotic response | ||
|
A-to-I | 3'UTR | chr12:69237509 | protein products expression change | chr12:69237509 | HeLa, HepG2, WI38 and HEK293 cell lines | STAU1 | Exerts a negative regulation on the expression of MDM2 protein products | Edited MDM2 suppressed the MDM2-dependent apoptotic response | ||
|
A-to-I | 3'UTR | chr12:69237510 | protein products expression change | chr12:69237510 | HeLa, HepG2, WI38 and HEK293 cell lines | STAU1 | Exerts a negative regulation on the expression of MDM2 protein products | Edited MDM2 suppressed the MDM2-dependent apoptotic response | ||
|
A-to-I | intronic | chr12:69215800 | mRNA expression change | Presence | brain | NA | mRNA expression change | RNA editing could contribute towards aberrant synaptic formation in ASD |