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Aliases for MDM2 Gene

Aliases for MDM2 Gene

  • MDM2 Proto-Oncogene 2 3
  • MDM2 Proto-Oncogene, E3 Ubiquitin Protein Ligase 2 3 5
  • Oncoprotein Mdm2 3 4
  • Hdm2 3 4
  • Mdm2, Transformed 3T3 Cell Double Minute 2, P53 Binding Protein (Mouse) 2
  • Mdm2, Transformed 3T3 Cell Double Minute 2, P53 Binding Protein 3
  • Mouse Double Minute 2, Human Homolog Of; P53-Binding Protein 2
  • Double Minute 2, Human Homolog Of; P53-Binding Protein 3
  • Mdm2, P53 E3 Ubiquitin Protein Ligase Homolog 3
  • MDM2 Oncogene, E3 Ubiquitin Protein Ligase 3
  • Mdm2 P53 Binding Protein Homolog (Mouse) 2
  • P53-Binding Protein Mdm2 4
  • Double Minute 2 Protein 4
  • EC 6.3.2.- 4
  • EC 6.3.2 63
  • ACTFS 3
  • HDMX 3

External Ids for MDM2 Gene

Previous GeneCards Identifiers for MDM2 Gene

  • GC12M068977
  • GC12P069030
  • GC12P068918
  • GC12P067488
  • GC12P069201
  • GC12P066253

Summaries for MDM2 Gene

Entrez Gene Summary for MDM2 Gene

  • 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]

GeneCards Summary for MDM2 Gene

MDM2 (MDM2 Proto-Oncogene) is a Protein Coding gene. Diseases associated with MDM2 include accelerated tumor formation and dedifferentiated liposarcoma. Among its related pathways are Bladder cancer and Cell cycle. GO annotations related to this gene include identical protein binding and ligase activity. An important paralog of this gene is MDM4.

UniProtKB/Swiss-Prot for MDM2 Gene

  • E3 ubiquitin-protein ligase that mediates ubiquitination of p53/TP53, leading to its degradation by the proteasome. Inhibits p53/TP53- and p73/TP73-mediated cell cycle arrest and apoptosis by binding its transcriptional activation domain. Also acts as a ubiquitin ligase E3 toward itself and ARRB1. Permits the nuclear export of p53/TP53. Promotes proteasome-dependent ubiquitin-independent degradation of retinoblastoma RB1 protein. Inhibits DAXX-mediated apoptosis by inducing its ubiquitination and degradation. Component of the TRIM28/KAP1-MDM2-p53/TP53 complex involved in stabilizing p53/TP53. Also component of the TRIM28/KAP1-ERBB4-MDM2 complex which links growth factor and DNA damage response pathways. Mediates ubiquitination and subsequent proteasome degradation of DYRK2 in nucleus. Ubiquitinates IGF1R and SNAI1 and promotes them to proteasomal degradation.

Tocris Summary for MDM2 Gene

  • Ligases are enzymes which catalyze the joining of two molecules with concomitant hydrolysis of the diphosphate bond in ATP or a similar triphosphate. They belong to the E.C. 6 class of enzymes, which also includes synthases and carboxylases.

Gene Wiki entry for MDM2 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MDM2 Gene

Genomics for MDM2 Gene

Regulatory Elements for MDM2 Gene

Enhancers for MDM2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around MDM2 on UCSC Golden Path with GeneCards custom track

Promoters for MDM2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MDM2 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the MDM2 gene promoter:

Genomic Location for MDM2 Gene

Chromosome:
12
Start:
68,808,168 bp from pter
End:
68,850,686 bp from pter
Size:
42,519 bases
Orientation:
Plus strand

Genomic View for MDM2 Gene

Genes around MDM2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MDM2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MDM2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MDM2 Gene

Proteins for MDM2 Gene

  • Protein details for MDM2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q00987-MDM2_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase Mdm2
    Protein Accession:
    Q00987
    Secondary Accessions:
    • A6NL51
    • A8K2S6
    • Q13226
    • Q13297
    • Q13298
    • Q13299
    • Q13300
    • Q13301
    • Q53XW0
    • Q71TW9
    • Q8WYJ1
    • Q8WYJ2
    • Q9UGI3
    • Q9UMT8

    Protein attributes for MDM2 Gene

    Size:
    491 amino acids
    Molecular mass:
    55233 Da
    Quaternary structure:
    • Interacts with p53/TP53, TP73/p73, RBL5 and RP11. Binds specifically to RNA. Can interact with RB1, E1A-associated protein EP300 and the E2F1 transcription factor. Forms a ternary complex with p53/TP53 and WWOX. Interacts with CDKN2AIP, RFWD3, USP7, PYHIN1, UBXN6, and RBBP6. Interacts with ARRB1 and ARRB2. Interacts with PSMA3. Found in a trimeric complex with MDM2, MDM4 and USP2. Interacts with USP2 (via N-terminus and C-terminus). Interacts with MDM4. Part of a complex with MDM2, DAXX, RASSF1 and USP7. Part of a complex with DAXX, MDM2 and USP7. Interacts directly with DAXX and USP7. Interacts (via C-terminus) with RASSF1 isoform A (via N-terminus); the interaction is independent of TP53. Interacts with APEX1; leading to its ubiquitination and degradation. Interacts with RYBP; this inhibits ubiquitination of TP53. Identified in a complex with RYBP and p53/TP53. Also component of the TRIM28/KAP1-MDM2-p53/TP53 complex involved in regulating p53/TP53 stabilization and activity. Binds directly both p53/TP53 and TRIM28. Component of the TRIM28/KAP1-ERBB4-MDM2 complex involved in connecting growth factor responses with DNA damage. Interacts directly with both TRIM28 and ERBB4 in the complex. Interacts with DYRK2. Interacts with IGF1R. Interacts with TRIM13; the interaction ubiquitinates MDM2 leading to its proteasomal degradation. Interacts with SNAI1; this interaction promotes SNAI1 ubiquitination. Interacts with NOTCH1 (via intracellular domain). Interacts with FHIT. Interacts with RFFL and RNF34; the interaction stabilizes MDM2. Interacts with CDK5RAP3 and CDKN2A/ARF; form a ternary complex involved in regulation of p53/TP53 (PubMed:16173922). Interacts with MTA1. Interacts with AARB2. Interacts with MTBP. Interacts with PML. Interacts with RPL11. Interacts with TBRG1. Interacts with herpes virus 8 protein v-IRF4. Interacts with and ubiquitinates HIV-1 Tat.
    Miscellaneous:
    • MDM2 RING finger mutations that failed to ubiquitinate p53 in vitro did not target p53 for degradation when expressed in cells.

    Three dimensional structures from OCA and Proteopedia for MDM2 Gene

    Alternative splice isoforms for MDM2 Gene

neXtProt entry for MDM2 Gene

Proteomics data for MDM2 Gene at MOPED

Post-translational modifications for MDM2 Gene

  • Autoubiquitination leads to proteasomal degradation; resulting in p53/TP53 activation it may be regulated by SFN. Also ubiquitinated by TRIM13. Deubiquitinated by USP2 leads to its accumulation and increases deubiquitination and degradation of p53/TP53. Deubiquitinated by USP7 leading to its stabilization.
  • Phosphorylation on Ser-166 by SGK1 activates ubiquitination of p53/TP53. Phosphorylated at multiple sites near the RING domain by ATM upon DNA damage; this prevents oligomerization and E3 ligase processivity and impedes constitutive p53/TP53 degradation.
  • Ubiquitination at Lys 36
  • Modification sites at PhosphoSitePlus

Domains & Families for MDM2 Gene

Gene Families for MDM2 Gene

Graphical View of Domain Structure for InterPro Entry

Q00987

UniProtKB/Swiss-Prot:

MDM2_HUMAN :
  • Region I is sufficient for binding p53 and inhibiting its G1 arrest and apoptosis functions. It also binds p73 and E2F1. Region II contains most of a central acidic region required for interaction with ribosomal protein L5 and a putative C4-type zinc finger. The RING finger domain which coordinates two molecules of zinc interacts specifically with RNA whether or not zinc is present and mediates the heterooligomerization with MDM4. It is also essential for its ubiquitin ligase E3 activity toward p53 and itself.
  • Belongs to the MDM2/MDM4 family.
  • Contains 1 RanBP2-type zinc finger.
Domain:
  • Region I is sufficient for binding p53 and inhibiting its G1 arrest and apoptosis functions. It also binds p73 and E2F1. Region II contains most of a central acidic region required for interaction with ribosomal protein L5 and a putative C4-type zinc finger. The RING finger domain which coordinates two molecules of zinc interacts specifically with RNA whether or not zinc is present and mediates the heterooligomerization with MDM4. It is also essential for its ubiquitin ligase E3 activity toward p53 and itself.
  • Contains 1 SWIB domain.
Family:
  • Belongs to the MDM2/MDM4 family.
Similarity:
  • Contains 1 RanBP2-type zinc finger.
  • Contains 1 RING-type zinc finger.
genes like me logo Genes that share domains with MDM2: view

Function for MDM2 Gene

Molecular function for MDM2 Gene

GENATLAS Biochemistry:
p53 associated protein 9,(homolog to murine oncogene Mdm2,present on a mouse double minute chromosome),downregulating TP53,acting as an E3 ubiquitin ligase directly transferring ubiquitin and targetting TP53 to proteasome complex for degradation,expressed in different layers of normal skin,amplified in human sarcoma,malignant glioma,angiosarcoma,liposarcoma and anaplastic astrocytoma,and diffuse large B cell lymphoma
UniProtKB/Swiss-Prot Function:
E3 ubiquitin-protein ligase that mediates ubiquitination of p53/TP53, leading to its degradation by the proteasome. Inhibits p53/TP53- and p73/TP73-mediated cell cycle arrest and apoptosis by binding its transcriptional activation domain. Also acts as a ubiquitin ligase E3 toward itself and ARRB1. Permits the nuclear export of p53/TP53. Promotes proteasome-dependent ubiquitin-independent degradation of retinoblastoma RB1 protein. Inhibits DAXX-mediated apoptosis by inducing its ubiquitination and degradation. Component of the TRIM28/KAP1-MDM2-p53/TP53 complex involved in stabilizing p53/TP53. Also component of the TRIM28/KAP1-ERBB4-MDM2 complex which links growth factor and DNA damage response pathways. Mediates ubiquitination and subsequent proteasome degradation of DYRK2 in nucleus. Ubiquitinates IGF1R and SNAI1 and promotes them to proteasomal degradation.
UniProtKB/Swiss-Prot Induction:
By DNA damage.

Enzyme Numbers (IUBMB) for MDM2 Gene

Gene Ontology (GO) - Molecular Function for MDM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042975 peroxisome proliferator activated receptor binding IEA --
genes like me logo Genes that share ontologies with MDM2: view
genes like me logo Genes that share phenotypes with MDM2: view

Human Phenotype Ontology for MDM2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MDM2 Gene

MGI Knock Outs for MDM2:

Animal Model Products

miRNA for MDM2 Gene

miRTarBase miRNAs that target MDM2

No data available for Transcription Factor Targets and HOMER Transcription for MDM2 Gene

Localization for MDM2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MDM2 Gene

Nucleus, nucleoplasm. Cytoplasm. Nucleus, nucleolus. Note=Expressed predominantly in the nucleoplasm. Interaction with ARF(P14) results in the localization of both proteins to the nucleolus. The nucleolar localization signals in both ARF(P14) and MDM2 may be necessary to allow efficient nucleolar localization of both proteins. Colocalizes with RASSF1 isoform A in the nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MDM2 Gene COMPARTMENTS Subcellular localization image for MDM2 gene
Compartment Confidence
cytosol 5
nucleus 5
plasma membrane 5
cytoskeleton 2
mitochondrion 2
extracellular 1

Gene Ontology (GO) - Cellular Components for MDM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005730 nucleolus IDA 10707090
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with MDM2: view

Pathways & Interactions for MDM2 Gene

SuperPathways for MDM2 Gene

genes like me logo Genes that share pathways with MDM2: view

Interacting Proteins for MDM2 Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000417281%0d%0a9606.ENSP00000270202%0d%0a9606.ENSP00000269305%0d%0a9606.ENSP00000269260%0d%0a9606.ENSP00000267163%0d%0a9606.ENSP00000343535%0d%0a
Selected Interacting proteins: Q00987-MDM2_HUMAN ENSP00000417281 for MDM2 Gene via UniProtKB I2D MINT STRING

Symbol External ID(s) Details
TP53
RYBP
PSME3
MDM4
PLK1

SIGNOR curated interactions for MDM2 Gene

Gene Ontology (GO) - Biological Process for MDM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001568 blood vessel development IEA --
GO:0001974 blood vessel remodeling IEA --
GO:0002027 regulation of heart rate IEA --
GO:0003170 heart valve development IEA --
GO:0003203 endocardial cushion morphogenesis IEA --
genes like me logo Genes that share ontologies with MDM2: view

Drugs & Compounds for MDM2 Gene

(67) Drugs for MDM2 Gene - From: DrugBank, ApexBio, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0
Cis-[4,5-Bis-(4-Bromophenyl)-2-(2-Ethoxy-4-Methoxyphenyl)-4,5-Dihydroimidazol-1-Yl]-[4-(2-Hydroxyethyl)Piperazin-1-Yl]Methanone Experimental Pharma Target 0
Cis-[4,5-Bis-(4-Chlorophenyl)-2-(2-Isopropoxy-4-Methoxyphenyl)-4,5-Dihyd Roimidazol-1-Yl]-Piperazin-1-Yl-Methanone Experimental Pharma Target 0
Diphosphate Experimental Pharma 0

(53) Additional Compounds for MDM2 Gene - From: Novoseek, Tocris, and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
HLI 373
502137-98-6
NSC 66811
6964-62-1
RITA
213261-59-7
SMER 3
67200-34-4

(5) Tocris Compounds for MDM2 Gene

Compound Action Cas Number
HLI 373 Hdm2 inhibitor; activates p53-dependent transcription 502137-98-6
NSC 66811 MDM2 antagonist. Disrupts MDM2-p53 interaction 6964-62-1
Nutlin-3 MDM2 antagonist; inhibits MDM2-p53 interaction 548472-68-0
RITA MDM2-p53 interaction inhibitor 213261-59-7
SMER 3 Selective inhibitor of E3 ubiquitin ligase 67200-34-4

(7) ApexBio Compounds for MDM2 Gene

Compound Action Cas Number
JNJ-26854165 (Serdemetan) P53 activator, blocking Mdm2-p53 interaction 881202-45-5
NSC 207895 (XI-006) MDMX inhibitor,anti-cancer agent 58131-57-0
Nutlin-3 MDM2 antagonist,inhibits MDM2-p53 interaction 890090-75-2
Nutlin-3a chiral MDM2 inhibitor, antiproliferative and antiproapoptotic 675576-98-4
Nutlin-3b MDM2/p53 inhibitor 675576-97-3
RG7112 MDM2 inhibitor, first clinical 939981-39-2
YH239-EE 1364488-67-4
genes like me logo Genes that share compounds with MDM2: view

Transcripts for MDM2 Gene

Unigene Clusters for MDM2 Gene

MDM2 oncogene, E3 ubiquitin protein ligase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MDM2 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b · 13c
SP1: - - -
SP2: - - - -
SP3: - - - - -
SP4: - - -
SP5: - - - -
SP6: -
SP7: - - - - - - - -
SP8: - - - - - - - -
SP9: - -
SP10: -
SP11: - - - - - - - - -
SP12: -
SP13: - - - - - - - - - -
SP14: - - - - - - - - - - -
SP15: - - - - - - - - - -
SP16: - - - - - - - - - -

Relevant External Links for MDM2 Gene

GeneLoc Exon Structure for
MDM2
ECgene alternative splicing isoforms for
MDM2

Expression for MDM2 Gene

mRNA expression in normal human tissues for MDM2 Gene

Protein differential expression in normal tissues from HIPED for MDM2 Gene

This gene is overexpressed in Liver, secretome (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for MDM2 Gene



SOURCE GeneReport for Unigene cluster for MDM2 Gene Hs.484551

mRNA Expression by UniProt/SwissProt for MDM2 Gene

Q00987-MDM2_HUMAN
Tissue specificity: Ubiquitous. Isoform Mdm2-A, isoform Mdm2-B, isoform Mdm2-C, isoform Mdm2-D, isoform Mdm2-E, isoform Mdm2-F and isoform Mdm2-G are observed in a range of cancers but absent in normal tissues.
genes like me logo Genes that share expression patterns with MDM2: view

Protein tissue co-expression partners for MDM2 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for MDM2 Gene

Orthologs for MDM2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MDM2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MDM2 35
  • 92.19 (n)
  • 94.5 (a)
MDM2 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MDM2 35
  • 92.95 (n)
  • 93.22 (a)
MDM2 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mdm2 35
  • 82.71 (n)
  • 83.2 (a)
Mdm2 16
Mdm2 36
  • 79 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MDM2 35
  • 99.8 (n)
  • 99.6 (a)
MDM2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mdm2 35
  • 82.86 (n)
  • 83.81 (a)
oppossum
(Monodelphis domestica)
Mammalia MDM2 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MDM2 36
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves MDM2 35
  • 72.03 (n)
  • 68.68 (a)
MDM2 36
  • 65 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MDM2 36
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mdm2 35
  • 64.91 (n)
  • 59.49 (a)
MGC75586 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.10885 35
zebrafish
(Danio rerio)
Actinopterygii mdm2 35
  • 55.18 (n)
  • 50.34 (a)
mdm2 36
  • 45 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 23 (a)
OneToMany
Species with no ortholog for MDM2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MDM2 Gene

ENSEMBL:
Gene Tree for MDM2 (if available)
TreeFam:
Gene Tree for MDM2 (if available)

Paralogs for MDM2 Gene

Paralogs for MDM2 Gene

Pseudogenes.org Pseudogenes for MDM2 Gene

genes like me logo Genes that share paralogs with MDM2: view

Variants for MDM2 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for MDM2 Gene

Q00987-MDM2_HUMAN
A polymorphism in the MDM2 promoter is associated with susceptibility to accelerated tumor formation in both hereditary and sporadic cancers [MIM:614401]. It also contributes to susceptibility to Li-Fraumeni syndrome, in patients carrying a TP53 germline mutation.

Sequence variations from dbSNP and Humsavar for MDM2 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs2077439 -- 68,841,383(+) ggcgt(G/T)agcca utr-variant-3-prime
rs10761 -- 68,843,960(+) TTCAT(A/G)ATACT utr-variant-3-prime
rs11784 -- 68,843,942(+) CTCAA(A/G)GCATT utr-variant-3-prime
rs7134724 -- 68,842,006(+) TCAGA(C/T)TGTAT utr-variant-3-prime
rs7296057 -- 68,840,591(+) gtctc(C/G)gcttc downstream-variant-500B, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for MDM2 Gene

Variant ID Type Subtype PubMed ID
nsv899226 CNV Loss 21882294
esv1668742 CNV Insertion 17803354

Variation tolerance for MDM2 Gene

Residual Variation Intolerance Score: 15.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.56; 12.16% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MDM2 Gene

HapMap Linkage Disequilibrium report
MDM2
Human Gene Mutation Database (HGMD)
MDM2

Disorders for MDM2 Gene

MalaCards: The human disease database

(104) MalaCards diseases for MDM2 Gene - From: OMIM, ClinVar, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
accelerated tumor formation
  • accelerated tumor formation, susceptibility to
dedifferentiated liposarcoma
  • ddls
atypical lipomatous tumor
  • pleomorphic lipoma
liposarcoma
pleomorphic liposarcoma
  • papillon-lefevre disease
- elite association - COSMIC cancer census association via MalaCards
Search MDM2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MDM2_HUMAN
  • Note=Seems to be amplified in certain tumors (including soft tissue sarcomas, osteosarcomas and gliomas). A higher frequency of splice variants lacking p53 binding domain sequences was found in late-stage and high-grade ovarian and bladder carcinomas. Four of the splice variants show loss of p53 binding.

Relevant External Links for MDM2

Genetic Association Database (GAD)
MDM2
Human Genome Epidemiology (HuGE) Navigator
MDM2
Tumor Gene Database (TGDB):
MDM2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MDM2
genes like me logo Genes that share disorders with MDM2: view

No data available for Genatlas for MDM2 Gene

Publications for MDM2 Gene

  1. Amplification of a gene encoding a p53-associated protein in human sarcomas. (PMID: 1614537) Oliner J.D. … Vogelstein B. (Nature 1992) 2 3 4 67
  2. Iron-dependent regulation of MDM2 influences p53 activity and hepatic carcinogenesis. (PMID: 20019189) Dongiovanni P. … Valenti L. (Am. J. Pathol. 2010) 3 23
  3. Detection of MDM2 gene amplification or protein expression distinguishes sclerosing mesenteritis and retroperitoneal fibrosis from inflammatory well-differentiated liposarcoma. (PMID: 18836421) Weaver J. … Rubin B.P. (Mod. Pathol. 2009) 3 23
  4. c-Abl phosphorylates Hdmx and regulates its interaction with p53. (PMID: 19075013) Zuckerman V. … Haupt Y. (J. Biol. Chem. 2009) 3 23
  5. A function for the RING finger domain in the allosteric control of MDM2 conformation and activity. (PMID: 19188367) Wawrzynow B. … Ball K.L. (J. Biol. Chem. 2009) 3 23

Products for MDM2 Gene

  • Addgene plasmids for MDM2

Sources for MDM2 Gene

Content