MDM2 Chromosome 12
MDM2 proto-oncogene
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What This Gene Does
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]
Gene Info
Gene Group
"Ring finger proteins|Zinc fingers RANBP2-type"
Locus Type
gene with protein product
Location
12q15
Ensembl
ENSG00000135679
Associated Conditions (3)
Accelerated tumor formation
susceptibility to
Lessel-kubisch syndrome
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2136138396 | Health Risk | Conflicting classifications of pathogenicity | Accelerated tumor formation, susceptibility to, Accelerated tumor formation |
| RS1592602849 | Health Risk | Likely pathogenic | Lessel-kubisch syndrome, Accelerated tumor formation, susceptibility to |