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26 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MDM4
MDM4 regulator of p53
Chromosome 1 · 1q32.1
NCBI Gene: 4194Ensembl: ENSG00000198625.15HGNC: HGNC:6974UniProt: A0A087WTR9
354PubMed Papers
21Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
RESEARCH IMPACT
Highly StudiedTrending
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
negative regulation of signal transduction by p53 class mediatorenzyme activator activityenzyme bindingnegative regulation of transcription by RNA polymerase IIprostate carcinomabone marrow failure syndrome 6breast carcinomatriple-negative breast cancer
✦AI Summary

MDM4 is a critical negative regulator of the p53 tumor suppressor pathway. As a p53-interacting protein, MDM4 inhibits p53-mediated cell cycle arrest and apoptosis by binding to p53's transcriptional activation domain, thereby blocking downstream target gene expression 1. MDM4 also stabilizes MDM2 protein and can reverse MDM2-targeted p53 degradation while maintaining p53 transactivation suppression 2. In cancer development, MDM4 is frequently amplified and overexpressed; trisomy of chromosome 1, which increases MDM4 expression, is required for malignant growth and mutually exclusive with TP53 mutations, suggesting "aneuploidy addiction" in cancer cells 3. In p53-mutant colon cancer, MDM4 overexpression inhibits ferroptosis by stabilizing GPX4 through TRIM21-mediated ubiquitination regulation, promoting chemotherapy resistance and cancer progression 4. Under nucleolar stress, ribosomal protein L22 promotes MDM4 exon 6 skipping, reducing full-length MDM4 levels and restoring p53 activity 5. MDM4 gene polymorphisms, particularly rs4245739, show associations with cancer risk in specific populations 6. These mechanisms identify MDM4 as an attractive therapeutic target through MDM4-p53 interaction disruptors to restore p53 anti-tumor activity.

Sources cited
1
MDM4 inhibits p53-mediated transcription and is frequently amplified/upregulated in cancers; MDM4 possesses multiple splicing isoforms with p53-independent functions
PMID: 35018230
2
Trisomy of chromosome 1q increases MDM4 expression and suppresses p53 signaling; TP53 mutations are mutually exclusive with 1q aneuploidy
PMID: 37410869
3
MDM4 is overexpressed in colon cancer with poor prognosis in p53-mutant cases; MDM4 inhibits ferroptosis via TRIM21/GPX4 pathway, promoting chemotherapy resistance
PMID: 39543140
4
Ribosomal protein L22 promotes MDM4 exon 6 skipping under nucleolar stress, reducing full-length MDM4 and restoring p53 activity
PMID: 39116201
5
MDM4 rs4245739 polymorphism is significantly associated with overall cancer risk, particularly in Asian populations and nonsmokers
PMID: 27742919
6
MDM4 rs1380576 and rs4245739 polymorphisms show associations with cancer susceptibility in Asian populations and breast cancer
PMID: 34347554
7
MDM4 is implicated in predicting advanced prostate cancer disease state
PMID: 34552244
Disease Associationsⓘ21
prostate carcinomaOpen Targets
0.56Moderate
bone marrow failure syndrome 6Open Targets
0.53Moderate
breast carcinomaOpen Targets
0.46Moderate
triple-negative breast cancerOpen Targets
0.44Moderate
prostate cancerOpen Targets
0.43Moderate
neurodegenerative diseaseOpen Targets
0.43Moderate
benign colon neoplasmOpen Targets
0.43Moderate
actinic keratosisOpen Targets
0.43Moderate
gastric carcinomaOpen Targets
0.37Weak
bile duct carcinomaOpen Targets
0.37Weak
carcinoma of liver and intrahepatic biliary tractOpen Targets
0.37Weak
hemangioblastomaOpen Targets
0.37Weak
Hepatobiliary NeoplasmOpen Targets
0.37Weak
kidney neoplasmOpen Targets
0.37Weak
lymphoid neoplasmOpen Targets
0.37Weak
nodular melanomaOpen Targets
0.37Weak
Ovarian Endometrioid Adenocarcinoma with Squamous DifferentiationOpen Targets
0.37Weak
skin basal cell carcinomaOpen Targets
0.37Weak
superficial spreading melanomaOpen Targets
0.37Weak
Transitional MeningiomaOpen Targets
0.37Weak
Bone marrow failure syndrome 6UniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ATMProtein interaction100%CDKN2AProtein interaction100%CSNK1A1Protein interaction100%SFNProtein interaction100%UBE2D2Protein interaction100%USP7Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
44%
Lung
36%
Liver
30%
Brain
20%
Heart
17%
Gene Interaction Network
Click a node to explore
MDM4ATMCDKN2ACSNK1A1SFNUBE2D2USP7
PROTEIN STRUCTURE
Preparing viewer…
PDB6Q9Y · 1.20 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.15Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.05 [0.02–0.15]
RankingsWhere MDM4 stands among ~20K protein-coding genes
  • #879of 20,598
    Most Researched354 · top 5%
  • #196of 17,882
    Most Constrained (LOEUF)0.15 · top 5%
Genes detectedMDM4
Sources retrieved26 papers
Response time—
📄 Sources
26▼
1
Oncogene-like addiction to aneuploidy in human cancers.
PMID: 37410869
Science · 2023
1.00
2
The associations between MDM4 gene polymorphisms and cancer risk.
PMID: 27742919
Oncotarget · 2016
0.90
3
MDM4 inhibits ferroptosis in p53 mutant colon cancer via regulating TRIM21/GPX4 expression.
PMID: 39543140
Cell Death Dis · 2024
0.80
4
Dependence on Mdm2 for Mdm4 inhibition of p53 activity.
PMID: 40081463
Cancer Lett · 2025
0.76
5
Regulation of MDM4.
PMID: 21196223
Front Biosci (Landmark Ed) · 2011
0.72