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FLASH GENE

Symbol

MDM2

contributors: mct/shn/pgu - updated : 02-04-2020

HGNC name	Mdm2 p53 binding protein homolog (mouse)
HGNC id	6973

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral   amplification     in sarcoma, malignant glioma,angiosarcoma, liposarcoma well differentiated and anaplastic astrocytoma, and diffuse large B cell lymphoma tumoral     --over   in leukemias tumoral   amplification     consistently amplified in classic and dedifferentiated low-grade osteosarcoma (LGOS) but not in their histologic mimics tumoral     --low   combinatory inhibition of TRIM65 and MDM2 in lung cancer cells tumoral     --over   MDM2 up-regulation in renal cancer cells can act in a dominant manner to abrogate the function of a potent suppressor of motility and metastasis

Susceptibility

to early onset in age of tumour in Li-Fraumeni syndrome to gastric carcinoma with poor prognosis

Variant & Polymorphism SNP	SNP309 G allele lowering the age of tumour onset in germline TP53 mutation carriers, this effect may be amplified by the TP53 72Arg allele
	promoter polymorphism SNP309 is associated with both gastric carcinoma and increased susceptibility

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer     antagonists of the TP53-MDM2 interaction showing good efficacy against tumors with normal MDM2 expression cancer skin   Nutlin-3a, an antagonist of MDM2, preferentially induces apoptosis and growth arrest in dedifferentiated liposarcoma cells compared with normal adipocytes cancer     targeting the acidic domain of MDM2 on its own or in combination with other drugs may be a useful therapeutic strategy for the prevention of cancer

ANIMAL & CELL MODELS

Knockout of MDM2 in mice results in embryonic lethality because of ectopic activation of p53