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

Danio rerio
mdm2
Mus musculus
Mdm2
Rattus norvegicus
Mdm2

In other databases

GenAge human genes
  • 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