Gene: MDM4

Alternate names for this Gene: BMFS6|HDMX|MDMX|MRP1

Gene Summary: 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1q32.1

Description of this Gene: MDM4 regulator of p53

Type of Gene: protein-coding

rs2290854 in MDM4 gene and Breast Carcinoma PMID 23544013 2013 We identified a novel breast cancer risk modifier locus at 1q32 for BRCA1 carriers (rs2290854, P = 2.7 × 10(-8), HR = 1.14, 95% CI: 1.09-1.20).

PMID 23535733 2013 Genome-wide association studies identify four ER negative-specific breast cancer risk loci.

PMID 27117709 2016 Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer.

rs4252707 in MDM4 gene and Central Nervous System Neoplasms PMID 28346443 2017 Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors.

rs4245739 in MDM4 gene and Diastolic blood pressure PMID 29455858 2018 A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure.

PMID 27618452 2016 The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals.

rs4252707 in MDM4 gene and Glioma PMID 28346443 2017 Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors.

rs4245739 in MDM4 gene and Malignant neoplasm of breast PMID 23535733 2013 Genome-wide association studies identify four ER negative-specific breast cancer risk loci.

rs4245739 in MDM4 gene and Malignant neoplasm of prostate PMID 23535732 2013 Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.

rs4245739 in MDM4 gene and Prostate carcinoma PMID 29892016 2018 Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci.

PMID 23535732 2013 Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.

rs4245739 in MDM4 gene and Systolic Pressure PMID 27618452 2016 The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals.