Gene: MDM2

Alternate names for this Gene: ACTFS|HDMX|LSKB|hdm2

Gene Summary: 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.

Gene is located in Chromosome: 12

Location in Chromosome : 12q15

Description of this Gene: MDM2 proto-oncogene

Type of Gene: protein-coding

rs3730590 in MDM2 gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs3730590 in MDM2 gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.