Overview

Location [1]
1q32.1
Pathway
DNA damage/repair
Protein [2]
Protein Mdm4
Synonyms [1]
MDMX, HDMX, 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 1.17% of all cancers with breast invasive ductal carcinoma, lung adenocarcinoma, conventional glioblastoma multiforme, glioblastoma, and prostate adenocarcinoma 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 +

Prostate Carcinoma +

Ovarian Carcinoma +

Medulloblastoma +

Breast Carcinoma +

Primary Peritoneal Carcinoma +

Cervical Carcinoma +

Fallopian Tube Carcinoma +

Medulloblastoma, Non-WNT/Non-SHH +

Non-Hodgkin Lymphoma +

Endometrial Carcinoma +

Urothelial Carcinoma +

Non-Small Cell Lung Carcinoma +

Colorectal Carcinoma +

Atypical Teratoid/Rhabdoid Tumor +

Central Nervous System Embryonal Neoplasm +

Central Nervous System Ganglioneuroblastoma +

Central Nervous System Neuroblastoma +

Cholangiocarcinoma +

Head And Neck Squamous Cell Carcinoma +

Medulloblastoma, SHH-Activated +

Medulloepithelioma +

Glioblastoma +

Malignant Glioma +

Diffuse Glioma +

Anaplastic Astrocytoma +

Malignant Central Nervous System Neoplasm +

Bladder Urothelial Carcinoma +

Soft Tissue Sarcoma +

Malignant Intestinal Neoplasm +

Malignant Ovarian Epithelial Tumor +

Malignant Esophagogastric Neoplasm +

Acute Biphenotypic Leukemia +

Acute Leukemia Of Ambiguous Lineage +

Acute Lymphoblastic Leukemia +

Acute Myeloid Leukemia +

Adenocarcinoma Of The Gastroesophageal Junction +

Ampulla Of Vater Carcinoma +

Anal Carcinoma +

Anaplastic Astrocytoma, IDH-Mutant +

Anaplastic Ependymoma +

Anaplastic Oligodendroglioma +

Anaplastic Oligodendroglioma, IDH-Mutant And 1p/19q-Codeleted +

Anaplastic Pleomorphic Xanthoastrocytoma +

Clear Cell Renal Cell Carcinoma +

Desmoplastic/Nodular Medulloblastoma +

Diffuse Large B-Cell Lymphoma +

Diffuse Midline Glioma, H3 K27M-Mutant +

Embryonal Tumor With Multilayered Rosettes, C19MC-Altered +

Embryonal Tumor With Multilayered Rosettes, Not Otherwise Specified +

Ependymoma +

Ependymoma, RELA Fusion-Positive +

Esophageal Carcinoma +

Extrarenal Rhabdoid Tumor +

Gastric Carcinoma +

Gastrointestinal Stromal Tumor +

Hepatoblastoma +

Hepatocellular Carcinoma +

High Grade Ovarian Serous Adenocarcinoma +

High-Grade Glioma, NOS +

Histiocytic And Dendritic Cell Neoplasm +

Intracranial Primitive Neuroectodermal Neoplasm +

Kidney Carcinoma +

Large Cell/Anaplastic Medulloblastoma +

Lymphoma +

Malignant Gastric Neoplasm +

Malignant Small Intestinal Neoplasm +

Mantle Cell Lymphoma +

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

Medulloblastoma With Extensive Nodularity +

Medulloblastoma, WNT-Activated +

Mesothelioma +

Mixed Phenotype Acute Leukemia +

Pancreatic Adenocarcinoma +

Pancreatic Carcinoma +

Penile Carcinoma +

Pineoblastoma +

Retinoblastoma +

Rhabdoid Tumor +

Rhabdoid Tumor Of The Kidney +

Small Cell Lung Carcinoma +

Uveal Melanoma +

Vaginal Carcinoma +

Vulvar Carcinoma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. 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 6. 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.