rs2169137

This is a downstream gene variant variant in the MDM4 gene.

GWAS Catalog Trait Associations (2)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

prostate carcinoma

Verma A et al. Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.08
p 1.0e-23
N 573,692
Major Consortium StudyLarge GWAS
multi-ancestry

diastolic blood pressure

Allele C
OR 0.16
p 8.0e-22
N 1,028,980
Large GWAS
multi-ancestry
Plotnikov D et al. High Blood Pressure and Intraocular Pressure: A Mendelian Randomization Study. Investigative Ophthalmology & Visual Science 63(6):29 (2022)
Allele C
OR 0.15
p 2.0e-10
N 526,001
Large GWAS
European
Verma A et al. Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.02
p 9.0e-18
N 425,680
Major Consortium StudyLarge GWAS
European

About MDM4

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]

View all MDM4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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