Medical Knowledge Cockpit accelerated tumor formation, susceptibility to

 

MDM2

This gene encodes a nuclear-localized E3 ubiquitin ligase. The encoded protein can promote tumor formation bytargeting tumor suppressor proteins, such as p53, for proteasomal degradation. This gene is itselftranscriptionally-regulated by p53. Overexpression or amplification of this locus is detected in a variety ofdifferent cancers. There is a pseudogene for this gene on chromosome 2. Alternative splicing results in amultitude of transcript variants, many of which may be expressed only in tumor cells. (provided by RefSeq, Jun2013)

This gene encodes a nuclear-localized E3 ubiquitin ligase

The encoded protein can promote tumor formation bytargeting tumor suppressor proteins, such as p53, for proteasomal degradation. This gene is itselftranscriptionally-regulated by p53. Overexpression or amplification of this locus is detected in a variety ofdifferent cancers. There is a pseudogene for this gene on chromosome 2. Alternative splicing results in amultitude of transcript variants, many of which may be expressed only in tumor cells. (provided by RefSeq, Jun2013)

 

MDM2

Somatic tumors

sarcoma, glioma, colorectal, other tumour types

Tumor types germline

Cancer Syndrom

Translocation partner

Name

Mdm2 p53 binding protein homolog

Chromosome banding

12q15

Cancer molecular gen.

Dom

Mutation type

A

Other syndrome disease

 

MDM2

• MDM2-HDAC1-mediated deacetylation of p53 is required for its degradation
• Direct interactions between HIF-1 alpha and Mdm2 modulate p53 function
• Regulation of tumor angiogenesis by p53-induced degradation of hypoxia-inducible factor 1alpha
• Tip60 is targeted to proteasome-mediated degradation by Mdm2 and accumulates after UV irradiation
• Identification of c-Cbl as a new ligase for insulin-like growth factor-I receptor with distinct roles from Mdm2 in receptor ubiquitination and endocytosis

• MdmX inhibits Smad transactivation
• MDM2 interacts with MDMX through their RING finger domains