MDM2 (NM_001145339) - MDM2 proto-oncogene

E3 Ubiquitin-Protein Ligase Mdm2 Isoform H

Mutations Visualisation

Protein summary

This is preferred isoform of MDM2 protein. View all 5 isoforms
MDM2: E3 ubiquitin-protein ligase Mdm2 isoform h
Description:

This gene encodes a nuclear-localized E3 ubiquitin ligase. The encoded protein can promote tumor formation by targeting tumor suppressor proteins, such as p53, for proteasomal degradation. This gene is itself transcriptionally-regulated by p53. Overexpression or amplification of this locus is detected in a variety of different cancers. There is a pseudogene for this gene on chromosome 2. Alternative splicing results in a multitude of transcript variants, many of which may be expressed only in tumor cells. [provided by RefSeq, Jun 2013].

Strand
+
Chromosome
12
Protein
442 residues
All mutations
53
PTM sites
47
CDS
69,202,257 - 69,233,629
Transcription
69,201,951 - 69,239,324
63.12% of sequence is predicted to be disordered

External references

Mappings retrieved from NCBI & Uniprot.
RefSeq
Entrez
gene: 4193
Uniprot
Ensembl