Homo sapiens Gene: MDM2
Summary
InnateDB Gene IDBG-46431.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MDM2
Gene Name Mdm2, p53 E3 ubiquitin protein ligase homolog (mouse)
Synonyms ACTFS; hdm2; HDMX
Species Homo sapiens
Ensembl Gene ENSG00000135679
Encoded Proteins
Mdm2 p53 binding protein homolog (mouse)
Mdm2 p53 binding protein homolog (mouse)
Mdm2 p53 binding protein homolog (mouse)
Mdm2 p53 binding protein homolog (mouse)
Mdm2 p53 binding protein homolog (mouse)
Mdm2 p53 binding protein homolog (mouse)
Mdm2 p53 binding protein homolog (mouse)
Mdm2 p53 binding protein homolog (mouse)
Mdm2 p53 binding protein homolog (mouse)
Mdm2 p53 binding protein homolog (mouse)
Mdm2 p53 binding protein homolog (mouse)
Mdm2 p53 binding protein homolog (mouse)
Mdm2 p53 binding protein homolog (mouse)
Mdm2 p53 binding protein homolog (mouse)
Mdm2 p53 binding protein homolog (mouse)
Mdm2 p53 binding protein homolog (mouse)
Mdm2 p53 binding protein homolog (mouse)
Mdm2 p53 binding protein homolog (mouse)
Mdm2 p53 binding protein homolog (mouse)
Mdm2 p53 binding protein homolog (mouse)
Mdm2 p53 binding protein homolog (mouse)
Mdm2 p53 binding protein homolog (mouse)
Mdm2 p53 binding protein homolog (mouse)
Mdm2 p53 binding protein homolog (mouse)
Mdm2 p53 binding protein homolog (mouse)
Mdm2 p53 binding protein homolog (mouse)
Mdm2 p53 binding protein homolog (mouse)
Mdm2 p53 binding protein homolog (mouse)
Mdm2 p53 binding protein homolog (mouse)
Mdm2 p53 binding protein homolog (mouse)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene is a target gene of the transcription factor tumor protein p53. The encoded protein is a nuclear phosphoprotein that binds and inhibits transactivation by tumor protein p53, as part of an autoregulatory negative feedback loop. Overexpression of this gene can result in excessive inactivation of tumor protein p53, diminishing its tumor suppressor function. This protein has E3 ubiquitin ligase activity, which targets tumor protein p53 for proteasomal degradation. This protein also affects the cell cycle, apoptosis, and tumorigenesis through interactions with other proteins, including retinoblastoma 1 and ribosomal protein L5. More than 40 different alternatively spliced transcript variants have been isolated from both tumor and normal tissues. [provided by RefSeq, Jul 2008]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 12:68808172-68850686
Strand Forward strand
Band q15
Transcripts
ENST00000258149 ENSP00000258149
ENST00000350057 ENSP00000266624
ENST00000258148 ENSP00000258148
ENST00000356290 ENSP00000348637
ENST00000299252 ENSP00000299252
ENST00000360430 ENSP00000353611
ENST00000348801 ENSP00000335096
ENST00000311420 ENSP00000310742
ENST00000400501
ENST00000393417 ENSP00000429021
ENST00000393416 ENSP00000377068
ENST00000393415 ENSP00000377067
ENST00000393413 ENSP00000377065
ENST00000393412 ENSP00000377064
ENST00000393410 ENSP00000377062
ENST00000428863 ENSP00000410694
ENST00000462284 ENSP00000417281
ENST00000493419
ENST00000523991 ENSP00000427828
ENST00000517852 ENSP00000430257
ENST00000496959 ENSP00000429692
ENST00000481186 ENSP00000431110
ENST00000478070 ENSP00000430906
ENST00000471946
ENST00000539479 ENSP00000444430
ENST00000543323 ENSP00000439238
ENST00000544561 ENSP00000441841
ENST00000545204 ENSP00000444597
ENST00000546048 ENSP00000445222
ENST00000540352 ENSP00000445030
ENST00000542502 ENSP00000444566
ENST00000537182 ENSP00000443450
ENST00000536089 ENSP00000444028
ENST00000543046
ENST00000540709
ENST00000544125
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 932 experimentally validated interaction(s) in this database.
They are also associated with 39 interaction(s) predicted by orthology.
Experimentally validated
Total 932 [view]
Protein-Protein 915 [view]
Protein-DNA 10 [view]
Protein-RNA 1 [view]
DNA-DNA 6 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 39 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0002039 p53 binding
GO:0004842 ubiquitin-protein transferase activity
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0016874 ligase activity
GO:0019899 enzyme binding
GO:0031625 ubiquitin protein ligase binding
GO:0042802 identical protein binding
GO:0042975 peroxisome proliferator activated receptor binding
GO:0097110 scaffold protein binding
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0006461 protein complex assembly
GO:0006977 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest
GO:0007089 traversing start control point of mitotic cell cycle
GO:0007173 epidermal growth factor receptor signaling pathway
GO:0007268 synaptic transmission
GO:0008284 positive regulation of cell proliferation
GO:0008543 fibroblast growth factor receptor signaling pathway
GO:0009636 response to toxic substance
GO:0009743 response to carbohydrate
GO:0010039 response to iron ion
GO:0010628 positive regulation of gene expression
GO:0010629 negative regulation of gene expression
GO:0010955 negative regulation of protein processing
GO:0016032 viral process
GO:0016567 protein ubiquitination
GO:0018205 peptidyl-lysine modification
GO:0030163 protein catabolic process
GO:0031648 protein destabilization
GO:0032026 response to magnesium ion
GO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process
GO:0034504 protein localization to nucleus
GO:0038095 Fc-epsilon receptor signaling pathway
GO:0042176 regulation of protein catabolic process
GO:0042220 response to cocaine
GO:0042493 response to drug
GO:0042787 protein ubiquitination involved in ubiquitin-dependent protein catabolic process
GO:0043066 negative regulation of apoptotic process
GO:0043154 negative regulation of cysteine-type endopeptidase activity involved in apoptotic process
GO:0043278 response to morphine
GO:0043518 negative regulation of DNA damage response, signal transduction by p53 class mediator
GO:0045087 innate immune response
GO:0045184 establishment of protein localization
GO:0045472 response to ether
GO:0045787 positive regulation of cell cycle
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045931 positive regulation of mitotic cell cycle
GO:0046677 response to antibiotic
GO:0046827 positive regulation of protein export from nucleus
GO:0048011 neurotrophin TRK receptor signaling pathway
GO:0048015 phosphatidylinositol-mediated signaling
GO:0048545 response to steroid hormone
GO:0070301 cellular response to hydrogen peroxide
GO:0071157 negative regulation of cell cycle arrest
GO:0071229 cellular response to acid
GO:0071236 cellular response to antibiotic
GO:0071301 cellular response to vitamin B1
GO:0071310 cellular response to organic substance
GO:0071312 cellular response to alkaloid
GO:0071363 cellular response to growth factor stimulus
GO:0071375 cellular response to peptide hormone stimulus
GO:0071391 cellular response to estrogen stimulus
GO:0071407 cellular response to organic cyclic compound
GO:0071456 cellular response to hypoxia
GO:0071494 cellular response to UV-C
Cellular Component
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0016604 nuclear body
GO:0030666 endocytic vesicle membrane
GO:0043234 protein complex
GO:0045202 synapse
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
AndrogenReceptor pathway
FSH pathway
REACTOME
Stabilization of p53 pathway
p53-Dependent G1 DNA Damage Response pathway
AKT phosphorylates targets in the cytosol pathway
PIP3 activates AKT signaling pathway
DAP12 signaling pathway
DAP12 interactions pathway
PI3K/AKT activation pathway
GAB1 signalosome pathway
Signaling by EGFR pathway
PI3K events in ERBB4 signaling pathway
Signaling by ERBB4 pathway
PI3K events in ERBB2 signaling pathway
Signaling by ERBB2 pathway
PI-3K cascade pathway
Signaling by FGFR pathway
Signaling by SCF-KIT pathway
Downstream signal transduction pathway
Signaling by PDGF pathway
Constitutive PI3K/AKT Signaling in Cancer pathway
Trafficking of AMPA receptors pathway
Signaling by FGFR in disease pathway
p53-Dependent G1/S DNA damage checkpoint pathway
Cellular responses to stress pathway
Oncogene Induced Senescence pathway
Signalling by NGF pathway
Signaling by EGFR in Cancer pathway
Downstream signaling of activated FGFR pathway
Neuronal System pathway
Role of LAT2/NTAL/LAB on calcium mobilization pathway
Innate Immune System pathway
Fc epsilon receptor (FCERI) signaling pathway
Signal Transduction pathway
Cell Cycle pathway
Adaptive Immune System pathway
Immune System pathway
Cellular Senescence pathway
NGF signalling via TRKA from the plasma membrane pathway
Transmission across Chemical Synapses pathway
PI3K/AKT Signaling in Cancer pathway
G1/S DNA Damage Checkpoints pathway
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell pathway
Signaling by the B Cell Receptor (BCR) pathway
Glutamate Binding, Activation of AMPA Receptors and Synaptic Plasticity pathway
Oxidative Stress Induced Senescence pathway
Downstream signaling events of B Cell Receptor (BCR) pathway
Disease pathway
Cell Cycle Checkpoints pathway
KEGG
Cell cycle pathway
Melanoma pathway
Bladder cancer pathway
Ubiquitin mediated proteolysis pathway
Glioma pathway
Prostate cancer pathway
Chronic myeloid leukemia pathway
p53 signaling pathway pathway
Endocytosis pathway
Pathways in cancer pathway
INOH
Tryptophan degradation pathway
PID NCI
Regulation of retinoblastoma protein
Aurora A signaling
ErbB4 signaling events
Direct p53 effectors
p53 pathway
Glucocorticoid receptor regulatory network
p73 transcription factor network
Sumoylation by RanBP2 regulates transcriptional repression
ATM pathway
ATR signaling pathway
Regulation of Androgen receptor activity
Validated transcriptional targets of deltaNp63 isoforms
Validated transcriptional targets of TAp63 isoforms
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.484551 Hs.743650
RefSeq NM_001145337 NM_001145339 NM_001145340 NM_001278462 NM_002392 XM_005268872 XM_006719399 XM_006719400
HUGO
OMIM
CCDS CCDS61189 CCDS8986
HPRD 01272
IMGT
EMBL
GenPept
RNA Seq Atlas