Preferred Label : MDM2 wt Allele;
NCIt synonyms : Mouse Double Minute 2 Homolog Gene; MDM 2; p53-Binding Protein Gene; MDM2 Protooncogene Gene; ACTFS; MDM2, Transformed 3T3 Cell Double Minute 2, p53 Binding Protein (Mouse) Gene; HDMX; MDM2 Proto-Oncogene, E3 Ubiquitin Protein Ligase Gene; Mdm2, Transformed 3T3 Cell Double Minute 2, p53 Binding Protein Gene; MDM2 Proto-Oncogene wt Allele; MGC5370; Mdm2 p53 Binding Protein Homolog (Mouse) Gene; Mdm2, p53 E3 Ubiquitin Protein Ligase Homolog Gene; MDM2 Oncogene, E3 Ubiquitin Protein Ligase Gene; Mouse Double Minute 2, Human Homolog of; p53-Binding Protein Gene; LSKB; HDM2; Double Minute 2, Human Homolog of; p53-Binding Protein Gene;
NCIt definition : Human MDM2 wild-type allele is located within 12q14.3-q15 and is approximately 32
kb in length. This allele, which encodes E3 ubiquitin-protein ligase Mdm2 protein,
plays a role in the regulation of transactivation by tumor protein p53, as part of
an autoregulatory negative feedback loop. Overexpression of MDM2 can result in excessive
inactivation of tumor protein p53 and diminish its tumor suppressor capability.;
NCIt note : Flanked by microsatellites D12S80 and D12S83, human MDM2 Gene (MDM2/MDM4 family) at
12q14.3-q15 encodes a 90 kD ubiquitin ligase E3 phosphoprotein that complexes with
p53 in S/G2/M, targeting its degradation and inhibiting p53-mediated gene transactivation.
The 25 kb murine gene contains at least twelve exons and MDM2 expression is regulated
by the RAS/MAPK pathway. Upon DNA damage, phosphorylation of p53 suppresses interaction
with MDM2 and p14(ARF) inhibits MDM2 activity. Interaction with MDM2 inhibits RB protein.
MDM2 amplification is found in some cancers and may lead to escape from p53-regulation
of growth control.;
GenBank Accession Number : NM_002392;
Origin ID : C51283;
UMLS CUI : C1708817;
Automatic exact mappings (from CISMeF team)
- OMIM relation
- Semantic type(s)
- concept_is_in_subset
- gene_found_in_organism
- gene_has_abnormality
- gene_in_chromosomal_location
- gene_involved_in_pathogenesis_of_disease
- gene_is_element_in_pathway
- gene_plays_role_in_process
