Location [1]
DNA damage/repair
Protein [2]
Protein Mdm4
Synonyms [1]

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 1.22% of all cancers with breast invasive ductal carcinoma, conventional glioblastoma multiforme, lung adenocarcinoma, invasive breast carcinoma, and glioblastoma having the greatest prevalence of alterations [3].

MDM4 GENIE Cases - Top Diseases

The most common alterations in MDM4 are MDM4 Amplification (0.72%), MDM4 Mutation (0.56%), MDM4 S367L (0.04%), MDM4 I19M (0.07%), and MDM4 A376V (0.01%) [3].

MDM4 GENIE Cases - Top Alterations

Significance of MDM4 in Diseases

Malignant Solid Tumor +

Prostate Adenocarcinoma +

Medulloblastoma +

Prostate Carcinoma +

Breast Carcinoma +

Ovarian Carcinoma +

Medulloblastoma, Non-WNT/Non-SHH +

Cervical Carcinoma +

Colorectal Carcinoma +

Primary Peritoneal Carcinoma +

Atypical Teratoid/Rhabdoid Tumor +

Fallopian Tube Carcinoma +

Endometrial Carcinoma +

Central Nervous System Embryonal Neoplasm +

Non-Small Cell Lung Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Non-Hodgkin Lymphoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Central Nervous System Ganglioneuroblastoma +

Central Nervous System Neuroblastoma +

Desmoplastic/Nodular Medulloblastoma +

Large Cell/Anaplastic Medulloblastoma +

Medulloblastoma With Extensive Nodularity +

Medulloblastoma, SHH-Activated +

Medulloblastoma, WNT-Activated +

Medulloepithelioma +

Penile Carcinoma +

Glioblastoma +

Malignant Glioma +

Diffuse Glioma +

Anaplastic Astrocytoma +

Rhabdoid Tumor +

Malignant Central Nervous System Neoplasm +

Retinoblastoma +

Anaplastic Ependymoma +

Anaplastic Oligodendroglioma +

Bladder Urothelial Carcinoma +

Urothelial Carcinoma +

Cholangiocarcinoma +

Small Cell Lung Carcinoma +

Soft Tissue Sarcoma +

High-Grade Glioma, NOS +

Diffuse Large B-Cell Lymphoma +

Esophageal Carcinoma +

Malignant Intestinal Neoplasm +

Malignant Esophagogastric Neoplasm +

Malignant Small Intestinal Neoplasm +

Gastrointestinal Stromal Tumor +

High Grade Ovarian Serous Adenocarcinoma +

Gastric Carcinoma +

Malignant Gastric Neoplasm +

Malignant Ovarian Epithelial Tumor +

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

Acute Myeloid Leukemia +

Lymphoma +

Pancreatic Adenocarcinoma +

Pancreatic Carcinoma +

Acute Biphenotypic Leukemia +

Acute Leukemia Of Ambiguous Lineage +

Acute Lymphoblastic Leukemia +

Ampulla Of Vater Carcinoma +

Anal Carcinoma +

Anaplastic Astrocytoma, IDH-Mutant +

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

Anaplastic Pleomorphic Xanthoastrocytoma +

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 +

Extrarenal Rhabdoid Tumor +

Hepatoblastoma +

Intracranial Primitive Neuroectodermal Neoplasm +

Mantle Cell Lymphoma +

Mixed Phenotype Acute Leukemia +

Pineoblastoma +

Rhabdoid Tumor Of The Kidney +

Vaginal Carcinoma +

Vulvar Carcinoma +


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 8. 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.