infinome is an experiment to study aging. Link your 23andMe account for personalized reports.




SNP: rs2290854

linkouts : SNPedia

Nearby Genes

MDM4 - MDM4, p53 regulator
This gene encodes a nuclear protein that contains a p53 binding domain at the N-terminus and a RING finger domain at the C-terminus, and shows structural similarity to p53-binding protein MDM2. Both proteins bind the p53 tumor suppressor protein and inhibit its activity, and have been shown to be overexpressed in a variety of human cancers. However, unlike MDM2 which degrades p53, this protein inhibits p53 by binding its transcriptional activation domain. This protein also interacts with MDM2 protein via the RING finger domain, and inhibits the latter's degradation. So this protein can reverse MDM2-targeted degradation of p53, while maintaining suppression of p53 transactivation and apoptotic functions. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Feb 2011]


Associated Traits (number of studies)

Breast Cancer in BRCA1 mutation carriers (1)

Association Studies

Reported
Allele
Positive
Allele
Effect Size /
Odds Ratio
Confidence
Interval
Trait Study



Search Results from Open Access Papers

Snippet