HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
50 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
MDM2
MDM2 proto-oncogene
Chromosome 12 Β· 12q15
NCBI Gene: 4193Ensembl: ENSG00000135679.27HGNC: HGNC:6973UniProt: A0A0A8KB75
2,215PubMed Papers
21Diseases
4Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
ApoptosisHighly ConstrainedHub GeneOncogene
RESEARCH IMPACT
Highly Studied
CLINICAL
Clinical TrialsOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
regulation of cell cycleubiquitin-dependent protein catabolic processnuclear bodyp53 bindingLessel-Kubisch syndromecancerLi-Fraumeni syndromeskin basal cell carcinoma
✦AI Summary

MDM2 is an E3 ubiquitin ligase that serves as the primary negative regulator of the p53 tumor suppressor protein 1. Its primary function involves mediating the ubiquitination and subsequent proteasomal degradation of p53, thereby inhibiting p53-mediated cell cycle arrest and apoptosis 1. The mechanism operates through a tightly regulated autoregulatory feedback loop where p53 transcriptionally activates MDM2, which then binds to p53's transcriptional activation domain and promotes its nuclear export and degradation 12. MDM2 also functions independently of p53, acting as an E3 ligase for other proteins including retinoblastoma protein and various cellular regulators 3. Disease relevance is significant, as MDM2 amplification or overexpression occurs frequently in human cancers, particularly those of mesenchymal origin, effectively inactivating p53's tumor suppressive functions 14. Clinically, MDM2 represents an important therapeutic target, with multiple p53-MDM2 antagonists under development to reactivate p53 in cancers with wild-type p53 5. However, MDM2's prognostic significance varies across different tumor types, making it a complex biomarker 6.

Sources cited
1
MDM2 functions as an E3 ubiquitin ligase that degrades p53 and forms an autoregulatory feedback loop
PMID: 14707282
2
MDM2 is a key negative regulator of p53 and forms an auto-regulatory feedback loop with p53
PMID: 24389645
3
MDM2 overexpression blocks p53's growth suppressive functions and has p53-independent roles including interaction with retinoblastoma protein
PMID: 9322885
4
MDM2 is abnormally upregulated in several types of cancers, especially those of mesenchymal origin
PMID: 25372739
5
p53-MDM2 antagonists are being developed as therapeutic candidates for inducing cancer cell death
PMID: 35563397
6
MDM2 overexpression can be both positive and negative predictor of outcome in different tumors
PMID: 14757840
Disease Associationsβ“˜21
Lessel-Kubisch syndromeOpen Targets
0.45Moderate
cancerOpen Targets
0.40Weak
Li-Fraumeni syndromeOpen Targets
0.39Weak
skin basal cell carcinomaOpen Targets
0.37Weak
prostate carcinomaOpen Targets
0.37Weak
breast ductal adenocarcinomaOpen Targets
0.37Weak
hemangioblastomaOpen Targets
0.37Weak
skin squamous cell carcinomaOpen Targets
0.37Weak
lymphoid neoplasmOpen Targets
0.37Weak
nodular melanomaOpen Targets
0.37Weak
Hepatobiliary NeoplasmOpen Targets
0.37Weak
carcinoma of liver and intrahepatic biliary tractOpen Targets
0.37Weak
Ovarian Endometrioid Adenocarcinoma with Squamous DifferentiationOpen Targets
0.37Weak
superficial spreading melanomaOpen Targets
0.37Weak
Transitional MeningiomaOpen Targets
0.37Weak
breast carcinomaOpen Targets
0.36Weak
acute myeloid leukemiaOpen Targets
0.35Weak
hepatocellular carcinomaOpen Targets
0.35Weak
melanomaOpen Targets
0.35Weak
non-small cell lung carcinomaOpen Targets
0.34Weak
Lessel-Kubisch syndromeUniProt
Pathogenic Variants1
NM_002392.6(MDM2):c.1492T>C (p.Ter498Gln)Likely pathogenic
Lessel-kubisch syndrome|Accelerated tumor formation, susceptibility to
β˜…β˜†β˜†β˜†2024β†’ Residue 498
View on ClinVar β†—
Drug Targets4
ALRIZOMADLINPhase II
Tumour suppressor p53/oncoprotein Mdm2 inhibitor
IDASANUTLINPhase III
Tumour suppressor p53/oncoprotein Mdm2 inhibitor
acute myeloid leukemia by FAB classification
NAVTEMADLINPhase II/III
Tumour suppressor p53/oncoprotein Mdm2 inhibitor
endometrial cancer
SIREMADLINPhase II
Tumour suppressor p53/oncoprotein Mdm2 inhibitor
neoplasm
Related Genes
AKT1Protein interaction100%UBE2D2Protein interaction100%USP7Protein interaction100%RPL11Protein interaction100%RPL5Protein interaction100%TP73Protein interaction100%
Tissue Expression6 tissues
Liver
100%
Lung
92%
Brain
80%
Bone Marrow
78%
Ovary
52%
Heart
34%
Gene Interaction Network
Click a node to explore
MDM2AKT1UBE2D2USP7RPL11RPL5TP73
PROTEIN STRUCTURE
Preparing viewer…
PDB6Q9L Β· 1.13 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.33Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.19 [0.11–0.33]
RankingsWhere MDM2 stands among ~20K protein-coding genes
  • #48of 20,598
    Most Researched2,215 Β· top 1%
  • #4,593of 5,498
    Most Pathogenic Variants1
  • #1,328of 17,882
    Most Constrained (LOEUF)0.33 Β· top 10%
Genes detectedMDM2
Sources retrieved50 papers
Response timeβ€”
πŸ“„ Sources
50β–Ό
1
Therapeutics Targeting p53-MDM2 Interaction to Induce Cancer Cell Death.
PMID: 35563397
Int J Mol Sci Β· 2022
1.00
2
MDM2, an introduction.
PMID: 14707282
Mol Cancer Res Β· 2003
0.90
3
Editor's note on 'down-regulation of MDM2 and activation of p53 in human cancer cells by antisense 9-aminoacridine-PNA (peptide nucleic acid) conjugates'.
PMID: 36864743
Nucleic Acids Res Β· 2023
0.86
4
The regulation of MDM2 oncogene and its impact on human cancers.
PMID: 24389645
Acta Biochim Biophys Sin (Shanghai) Β· 2014
0.80
5
mdm2 gene alterations and mdm2 protein expression in breast carcinomas.
PMID: 7891224
J Pathol Β· 1995
0.80