MDM2 Gene Summary [Human]

This gene encodes a nuclear-localized E3 ubiquitin ligase. The encoded protein can promote tumor formation by targeting tumor suppressor proteins, such as p53, for proteasomal degradation. This gene is itself transcriptionally-regulated by p53. Overexpression or amplification of this locus is detected in a variety of different cancers. There is a pseudogene for this gene on chromosome 2. Alternative splicing results in a multitude of transcript variants, many of which may be expressed only in tumor cells. [provided by RefSeq, Jun 2013]

Details

Type
Protein Coding
Official Symbol
MDM2
Official Name
MDM2 proto-oncogene [Source:HGNC Symbol;Acc:HGNC:6973]
Ensembl ID
ENSG00000135679
Bio databases IDs NCBI: 4193 Ensembl: ENSG00000135679
Aliases MDM2 proto-oncogene
Synonyms 1700007J15Rik, ACTFS, hdm2, HDMX, LSKB, MDM2-A1, MDM2 proto-oncogene, MGC5370, Transformed 3t3 cell double minute 2, transformed mouse 3T3 cell double minute 2
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human MDM2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • SWIB/MDM2 domain
  • p21 binding domain
  • transcription regulator
  • ATP-binding domain
  • enzyme
  • zinc binding domain
  • identical protein binding
  • MAPKAPK2 phosphorylation site
  • peroxisome proliferator activated receptor binding
  • zinc ion binding
  • RING finger (Really Interesting New Gene) domain and U-box domain superfamily
  • ribonucleoprotein binding
  • nucleolar targeting motif
  • p53-binding domain
  • beta-arrestin binding domain
  • ubiquitin protein ligase binding
  • NEDD8 ligase
  • SUMO transferase activity
  • nuclear export signal
  • ubiquitin protein ligase activity
  • 5S rRNA binding
  • nuclear localization sequence
  • enzyme binding
  • central domain
  • ubiquitin binding
  • protein domain specific binding
  • Ring finger domain
  • protein binding
  • receptor binding
  • p53 binding
  • acidic domain
  • phosphorylation site
  • caveolin binding domain
  • ubiquitin ligase-like domain
  • p300/cbp binding domain
  • Zn-finger in Ran binding protein and others
  • ligase
  • ubiquitin-protein transferase activity
  • ubiquitin-like-protein ligase
  • zinc finger domain
  • SWIB/MDM2 domain family
  • E3 ubiquitin ligase domain
  • Zinc finger, C3HC4 type (RING finger)

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • neoplasia
  • squamous cell cancer
  • epithelial cancer
  • epithelial neoplasia
  • cancer
  • relapsed endometrial cancer
  • tumorigenesis
  • mixed sarcomatoid-epithelial nasopharyngeal carcinoma
  • mixed neoplasia
  • sarcomatoid cancer
regulated by
  • butyric acid
  • hydrogen peroxide
  • IGF1
  • TGFB1
  • bleomycin
  • OGT
  • sirolimus
  • L-cysteine
  • MYC
  • PD98059
role in cell
  • apoptosis
  • activation in
  • replication in
  • G1 phase
  • cell death
  • phosphorylation in
  • activation
  • proliferation
  • cell cycle progression
  • growth

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Nucleus
  • nuclear fraction
  • glutaminergic synapse
  • endocytic vesicle membrane
  • Cytoplasm
  • perinuclear region
  • cellular membrane
  • Plasma Membrane
  • centrosome
  • granules
  • cytosol
  • nucleoplasm
  • nucleoli
  • nuclear bodies
  • postsynaptic density

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human MDM2 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • protein sumoylation
  • regulation of protein catabolic process
  • response to toxin
  • endocardial cushion morphogenesis
  • cellular response to UV-C
  • negative regulation of transcription, DNA-dependent
  • negative regulation of neuron projection development
  • apoptotic process
  • cellular response to peptide hormone stimulus
  • regulation of cell cycle
  • cellular response to hypoxia
  • proteolysis involved in cellular protein catabolic process
  • protein localization to nucleus
  • negative regulation of DNA damage response, signal transduction by p53 class mediator
  • positive regulation of protein export from nucleus
  • macromolecular complex assembly
  • atrioventricular valve morphogenesis
  • response to cocaine
  • positive regulation of mitotic cell cycle
  • establishment of protein localization
  • proteasomal ubiquitin-dependent protein catabolic process
  • cellular response to gamma radiation
  • positive regulation of gene expression
  • cellular response to growth factor stimulus
  • regulation of gene expression
  • positive regulation of proteasomal ubiquitin-dependent protein catabolic process
  • fibroblast activation
  • protein ubiquitination
  • positive regulation of cell proliferation
  • response to antibiotic
  • response to xenobiotic stimulus
  • negative regulation of transcription from RNA polymerase II promoter
  • DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest
  • blood vessel development
  • negative regulation of protein processing
  • response to ether
  • response to iron ion
  • response to magnesium ion
  • cellular response to alkaloid
  • cellular response to hydrogen peroxide
  • positive regulation of muscle cell differentiation
  • protein autoubiquitination
  • cellular response to actinomycin D
  • ventricular septum development
  • protein polyubiquitination
  • atrial septum development
  • traversing start control point of mitotic cell cycle
  • response to steroid hormone stimulus
  • cardiac septum morphogenesis
  • cellular response to estrogen stimulus
  • cell cycle
  • ubiquitin-dependent protein catabolic process
  • protein destabilization
  • regulation of heart rate
  • blood vessel remodeling
  • negative regulation of apoptotic process
  • cellular response to vitamin B1

Cellular Component

Where in the cell the gene product is active
  • nucleus
  • nuclear body
  • cytoplasm
  • transcriptional repressor complex
  • cytosol
  • macromolecular complex
  • nucleolus
  • plasma membrane
  • endocytic vesicle membrane
  • nucleoplasm

Molecular Function

What the gene product does at the molecular level
  • zinc ion binding
  • protein domain specific binding
  • identical protein binding
  • 5S rRNA binding
  • peroxisome proliferator activated receptor binding
  • ubiquitin-protein ligase activity
  • p53 binding
  • ubiquitin protein ligase binding
  • protein binding
  • ubiquitin binding
  • ribonucleoprotein complex binding
  • ligase activity
  • receptor serine/threonine kinase binding
  • SUMO ligase activity
  • enzyme binding

Gene-Specific Assays for Results You Can Trust

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