Overview

Location [1]
1q32.1
Pathway
DNA damage/repair
Protein [2]
Protein Mdm4
Synonyms [1]
HDMX, MDMX, MRP1

MDM4, p53 regulator (MDM4) is a gene that encodes a protein with a p53 binding domain to bind p53 and inhibit its activation. Missense mutations, nonsense mutations, silent mutations, and frameshift deletions are observed in cancers such as endometrial cancer, intestinal cancer, and stomach cancer.

MDM4 is altered in 1.36% of all cancers with breast carcinoma, malignant glioma, non-small cell lung carcinoma, melanoma, and uterine corpus neoplasm having the greatest prevalence of alterations [3].

MDM4 GENIE Cases - Top Diseases

The most common alterations in MDM4 are MDM4 Amplification (0.71%), MDM4 Mutation (0.65%), MDM4 S367L (0.04%), MDM4 A376V (0.02%), and MDM4 I19M (0.01%) [3].

MDM4 GENIE Cases - Top Alterations

Significance of MDM4 in Diseases

Malignant Solid Tumor +

Prostate Adenocarcinoma +

Ovarian Carcinoma +

Breast Carcinoma +

Prostate Carcinoma +

Colorectal Carcinoma +

Non-Hodgkin Lymphoma +

Cholangiocarcinoma +

Small Cell Lung Carcinoma +

Cervical Carcinoma +

Gastric Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Endometrial Carcinoma +

Retinoblastoma +

Urothelial Carcinoma +

Uveal Melanoma +

Diffuse Large B-Cell Lymphoma +

Lung Adenocarcinoma +

Non-Small Cell Lung Carcinoma +

Acute Myeloid Leukemia +

Mesothelioma +

Clear Cell Renal Cell Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Squamous Cell Lung Carcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Lymphoma +

Soft Tissue Sarcoma +

Pancreatic Adenocarcinoma +

Pancreatic Carcinoma +

Acute Biphenotypic Leukemia +

Acute Leukemia Of Ambiguous Lineage +

Acute Lymphoblastic Leukemia +

Anal Carcinoma +

Fallopian Tube Carcinoma +

Hepatoblastoma +

Histiocytic And Dendritic Cell Neoplasm +

Mantle Cell Lymphoma +

Mature T-Cell And NK-Cell Non-Hodgkin Lymphoma +

Mixed Phenotype Acute Leukemia +

Penile Carcinoma +

Peritoneal Carcinoma +

Vaginal Carcinoma +

Vulvar Carcinoma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20170629. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 4. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.