LongevityMap Gene
Gene details
- HGNC symbol
- MDM2
- Aliases
- HDMX; hdm2; ACTFS
- Common name
- MDM2 proto-oncogene
- 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]
- Cytogenetic Location
- 12q15
- UCSC Genome Browser
- View 12q15 on the UCSC genome browser
- OMIM
- 164785
- Ensembl
- ENSG00000135679
- UniProt/Swiss-Prot
- A0A0A8KB75_HUMAN
- Entrez Gene
- 4193
- UniGene
- 484551
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
In other databases
- GenAge human genes
- This gene is present as MDM2
- CellAge
- This gene is present as MDM2
- CellAge gene expression
- This gene is present as MDM2
Studies (1)
Significant/Non-significant: 0/1
- Longevity Association
- Non-significant
- Population
- Italian (Southern)
- Study Design
- A two-stage case-control study was performed to identify the association between longevity and variation of in homeostasis regulation pathway genes. 317 SNPs in 104 genes were analyzed in 78 cases (≥90 years, median age 98 years, 42 females) and 71 controls (<90 years, median age 67 years, 32 females) in stage 1. Then, 31 candidate SNPs identified in stage 1 (π markers = 0.1) were analyzed in an independent sample composed by 288 cases (≥90 years, median age 92 years, 163 females) and 554 controls (<90 years, median age 67 years, 277 females).
- Conclusions
- After adjustment for multiple testing, no significant association was identified between various SNPs and longevity.
- Indentifier
- rs1625525
- Reference