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 chr... See more...

Aliases for MDM2 Gene

Aliases for MDM2 Gene

  • MDM2 Proto-Oncogene 2 3 5
  • MDM2 Proto-Oncogene, E3 Ubiquitin Protein Ligase 2 3
  • E3 Ubiquitin-Protein Ligase Mdm2 3 4
  • 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
  • RING-Type E3 Ubiquitin Transferase Mdm2 4
  • P53-Binding Protein Mdm2 4
  • Double Minute 2 Protein 4
  • EC 2.3.2.27 4
  • EC 6.3.2 51
  • MGC5370 2
  • ACTFS 3
  • HDMX 3
  • LSKB 3
  • MDM2 5
  • HDM2 2

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]

CIViC Summary for MDM2 Gene

GeneCards Summary for MDM2 Gene

MDM2 (MDM2 Proto-Oncogene) is a Protein Coding gene. Diseases associated with MDM2 include Lessel-Kubisch Syndrome and Accelerated Tumor Formation. Among its related pathways are ATM Pathway and Apoptosis Modulation and Signaling. Gene Ontology (GO) annotations related to this gene include identical protein binding and ligase activity. An important paralog of this gene is MDM4.

UniProtKB/Swiss-Prot Summary 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 (PubMed:12821780, PubMed:15053880, PubMed:15195100, PubMed:15632057, PubMed:16337594, PubMed:17290220, PubMed:19098711, PubMed:19219073, PubMed:19837670, PubMed:19965871, PubMed:20173098, PubMed:20385133, PubMed:20858735, PubMed:22128911). Ubiquitinates DCX, leading to DCX degradation and reduction of the dendritic spine density of olfactory bulb granule cells (By similarity). Ubiquitinates DLG4, leading to proteasomal degradation of DLG4 which is required for AMPA receptor endocytosis (By similarity).

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 , Rfam classification and piRNA Summary for MDM2 Gene

Genomics for MDM2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MDM2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MDM2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MDM2

Top Transcription factor binding sites by QIAGEN in the MDM2 gene promoter:
  • AP-1

Genomic Locations for MDM2 Gene

Genomic Locations for MDM2 Gene
chr12:68,808,149-68,850,686
(GRCh38/hg38)
Size:
42,538 bases
Orientation:
Plus strand
chr12:69,201,956-69,239,214
(GRCh37/hg19)
Size:
37,259 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, 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 TBRG1. Interacts with the 5S RNP which is composed of the 5S RNA, RPL5 and RPL11; the interaction is direct, occurs in the nucleoplasm and negatively regulates MDM2-mediated TP53 ubiquitination and degradation (PubMed:15195100, PubMed:24120868). Interacts with ADGRB1; the interaction results in inhibition of MDM2-mediated ubiquitination and degradation of DLG4/PSD95, promoting DLG4 stability and regulating synaptic plasticity (By similarity). Interacts with RPL23A; this interaction may promote p53/TP53 polyubiquitination (PubMed:26203195).
    • (Microbial infection) Interacts with herpes virus 8 protein v-IRF4.
    • (Microbial infection) 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.
    • [Isoform Mdm2-F]: Does not interact with p53/TP53.

    Three dimensional structures from OCA and Proteopedia for MDM2 Gene

    Alternative splice isoforms for MDM2 Gene

neXtProt entry for MDM2 Gene

Selected DME Specific Peptides for MDM2 Gene

Q00987:
  • DDKITQAS
  • SLSFDESLALCV
  • CFTCAKKLKKRNKPCPVCRQPIQMIVL
  • DTYTMKE
  • MIYRNLV
  • LYDEKQQHIV
  • DPEISLADYWKCTSCNEMNPPLP
  • PIQMIVLTYF
  • GESDTDSFE
  • LDQDSVSDQFSVEFEVESLDSEDYSLS
  • RPKNGCIVHG
  • REICCERSSSSEST
  • FGVPSFSVKEHRKIY

Post-translational modifications for MDM2 Gene

  • 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.
  • 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.
  • Glycosylation at Asn349
  • Ubiquitination at Lys36
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Antibody Products

  • Abcam antibodies for MDM2

Domains & Families for MDM2 Gene

Gene Families for MDM2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for MDM2 Gene

Suggested Antigen Peptide Sequences for MDM2 Gene

GenScript: Design optimal peptide antigens:
  • Mdm2 (A7UKX9_HUMAN)
  • MDM2 protein (A8WFP2_HUMAN)
  • MDM2 (D0EKL1_HUMAN)
  • p53-binding protein Mdm2 (MDM2_HUMAN)
  • P53-binding protein (Q546E6_HUMAN)

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.
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.
Family:
  • Belongs to the MDM2/MDM4 family.
genes like me logo Genes that share domains with MDM2: view

Function for MDM2 Gene

Molecular function for MDM2 Gene

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 (PubMed:12821780, PubMed:15053880, PubMed:15195100, PubMed:15632057, PubMed:16337594, PubMed:17290220, PubMed:19098711, PubMed:19219073, PubMed:19837670, PubMed:19965871, PubMed:20173098, PubMed:20385133, PubMed:20858735, PubMed:22128911). Ubiquitinates DCX, leading to DCX degradation and reduction of the dendritic spine density of olfactory bulb granule cells (By similarity). Ubiquitinates DLG4, leading to proteasomal degradation of DLG4 which is required for AMPA receptor endocytosis (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.27; Evidence={ECO:0000269|PubMed:12821780};.
UniProtKB/Swiss-Prot Induction:
By DNA damage.
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

Enzyme Numbers (IUBMB) for MDM2 Gene

Phenotypes From GWAS Catalog for MDM2 Gene

Gene Ontology (GO) - Molecular Function for MDM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002039 p53 binding IPI 9529249
GO:0004842 ubiquitin-protein transferase activity IMP 20173098
GO:0005515 protein binding IEA,IPI 7791904
GO:0008097 5S rRNA binding IDA 24120868
GO:0008270 zinc ion binding IDA 10722742
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

CRISPR Products

miRNA for MDM2 Gene

miRTarBase miRNAs that target MDM2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MDM2

Clone Products

  • Addgene plasmids for 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MDM2 gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 5
extracellular 3
cytoskeleton 3
mitochondrion 3
endoplasmic reticulum 2
endosome 2
lysosome 2
golgi apparatus 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MDM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IMP 15314173
GO:0005654 nucleoplasm IEA,TAS --
GO:0005730 nucleolus IEA,IMP 11718560
GO:0005737 cytoplasm IEA,IMP 15314173
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with MDM2: view

Pathways & Interactions for MDM2 Gene

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

Pathways by source for MDM2 Gene

3 Sino Biological pathways for MDM2 Gene
8 GeneGo (Thomson Reuters) pathways for MDM2 Gene
  • Development Angiotensin signaling via beta-Arrestin
  • DNA damage Role of SUMO in p53 regulation
  • DNA damage_ATM/ATR regulation of G1/S checkpoint
  • Proteolysis Putative SUMO-1 pathway
  • Signal transduction AKT signaling
2 R&D Systems pathways for MDM2 Gene
1 Tocris pathway for MDM2 Gene
15 Qiagen pathways for MDM2 Gene
  • Akt Signaling
  • ATM Pathway
  • Cellular Apoptosis Pathway
  • Chks in Checkpoint Regulation
  • DNA Repair Mechanisms
2 Cell Signaling Technology pathways for MDM2 Gene
2 GeneTex pathways for MDM2 Gene

SIGNOR curated interactions for MDM2 Gene

Gene Ontology (GO) - Biological Process for MDM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA,IDA 9271120
GO:0000209 protein polyubiquitination TAS 23150757
GO:0001568 blood vessel development IEA --
GO:0001974 blood vessel remodeling IEA --
GO:0002027 regulation of heart rate IEA --
genes like me logo Genes that share ontologies with MDM2: view

Drugs & Compounds for MDM2 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zinc Approved, Investigational Pharma Target 1594
zinc acetate Approved, Investigational Pharma Target 0
Zinc chloride Approved, Investigational Pharma Target, binder 0
Zinc sulfate, unspecified form Approved, Experimental Pharma Target, binder 0
Cytarabine Approved, Experimental, Investigational Pharma 1335

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
14000-31-8
Apcin
300815-04-7
RITA
213261-59-7
SKPin C1
432001-69-9
TAME hydrochloride
1784-03-8

(5) Tocris Compounds for MDM2 Gene

Compound Action Cas Number
Apcin Cdc20 inhibitor; inhibits Cdc20-substrate interaction 300815-04-7
NSC 66811 MDM2 antagonist. Disrupts MDM2-p53 interaction 6964-62-1
RITA MDM2-p53 interaction inhibitor 213261-59-7
SKPin C1 Inhibits Skp2-mediated p27 degradation; induces cell cycle arrest 432001-69-9
TAME hydrochloride Ubiquitin ligase APC/C inhibitor; promotes Cdc20 autoubiquitination 1784-03-8

(17) ApexBio Compounds for MDM2 Gene

Compound Action Cas Number
AMG232 p53-MDM2 inhibitor, novel 1352066-68-2
HLI 373 Hdm2 ubiquitin ligase (E3) inhibitor 502137-98-6
JNJ-26854165 (Serdemetan) P53 activator, blocking Mdm2-p53 interaction 881202-45-5
MI-773 MDM2 inhibitor 1303607-07-9
MI-773 (SAR405838) 1303607-60-4
NSC 207895 (XI-006) MDMX inhibitor,anti-cancer agent 58131-57-0
NSC 66811 MDM2 inhibitor 6964-62-1
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
p53/MDM2 Set I
Pifithrin-β 60477-34-1
RG7112 MDM2 inhibitor, first clinical 939981-39-2
RG7388 MDM2 antagonist, oral, selective 1229705-06-9
RITA (NSC 652287) Mdm2-p53 interaction and p53 ubiquitination blocking 213261-59-7
WR 1065 P53/p21waf-1/MDM2 activator 14653-77-1
YH239-EE 1364488-67-4
genes like me logo Genes that share compounds with MDM2: view

Drug Products

Transcripts for MDM2 Gene

mRNA/cDNA for MDM2 Gene

13 REFSEQ mRNAs :
114 NCBI additional mRNA sequence :
37 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MDM2

Clone Products

  • Addgene plasmids for MDM2

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

Expression for MDM2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for MDM2 Gene



Protein tissue co-expression partners for MDM2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MDM2

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.

Evidence on tissue expression from TISSUES for MDM2 Gene

  • Intestine(4.9)
  • Nervous system(4.5)
  • Lung(4.4)
  • Skin(4)
  • Kidney(4)
  • Muscle(3.9)
  • Heart(3.9)
  • Bone marrow(3.9)
  • Pancreas(3.8)
  • Stomach(3.8)
  • Spleen(3.8)
  • Thyroid gland(3.7)
  • Liver(3.7)
  • Adrenal gland(3.6)
  • Lymph node(3.5)
  • Gall bladder(3.4)
  • Blood(3.2)
  • Bone(3)
  • Eye(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MDM2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • head
  • jaw
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • skull
Thorax:
  • breast
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • adrenal gland
  • intestine
  • kidney
  • large intestine
  • pancreas
  • stomach
Pelvis:
  • pelvis
  • prostate
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • bone marrow
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with MDM2: view

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
Chimpanzee
(Pan troglodytes)
Mammalia MDM2 30 31
  • 99.8 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MDM2 30 31
  • 92.95 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MDM2 30 31
  • 92.19 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mdm2 30
  • 82.86 (n)
Mouse
(Mus musculus)
Mammalia Mdm2 30 17 31
  • 82.71 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MDM2 31
  • 77 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MDM2 31
  • 72 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MDM2 30 31
  • 72.03 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MDM2 31
  • 53 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mdm2 30
  • 64.91 (n)
MGC75586 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.10885 30
Zebrafish
(Danio rerio)
Actinopterygii mdm2 30 31
  • 55.18 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 23 (a)
OneToMany
Species where no ortholog for MDM2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for MDM2: view image

Paralogs for MDM2 Gene

Paralogs for MDM2 Gene

(10) SIMAP similar genes for MDM2 Gene using alignment to 31 proteins:

  • MDM2_HUMAN
  • A8WFP2_HUMAN
  • D0EKL1_HUMAN
  • E5RHE2_HUMAN
  • E5RJQ0_HUMAN
  • E7EMW5_HUMAN
  • E7EPE2_HUMAN
  • F5GWH7_HUMAN
  • F5GZB0_HUMAN
  • F5GZC3_HUMAN
  • F5H1M7_HUMAN
  • F5H4Q8_HUMAN
  • G3XA89_HUMAN
  • J3KN53_HUMAN
  • J3QST1_HUMAN
  • Q546E6_HUMAN
  • Q8NDV9_HUMAN
  • Q8NDW0_HUMAN
  • Q8NDW1_HUMAN
  • Q8NDW2_HUMAN
  • Q8WYJ3_HUMAN
  • Q96DS0_HUMAN
  • Q96DS1_HUMAN
  • Q96DS2_HUMAN
  • Q96DS3_HUMAN
  • Q96DS4_HUMAN
  • Q96DS5_HUMAN
  • Q9H4C2_HUMAN
  • Q9H4C3_HUMAN
  • Q9H4C4_HUMAN
  • Q9H4C5_HUMAN

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

MDM2_HUMAN-Q00987
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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MDM2 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
694663 Pathogenic: LESSEL-KUBISCH SYNDROME 68,839,847(+) T/C STOP_LOST
695297 Likely Benign: not provided 68,808,546(+) C/T INTRON_VARIANT
698923 Likely Benign: not provided 68,828,768(+) C/T INTRON_VARIANT
851326 Uncertain Significance: Accelerated tumor formation, susceptibility to 68,828,930(+) C/T MISSENSE_VARIANT,INTRON_VARIANT
855111 Uncertain Significance: Accelerated tumor formation, susceptibility to 68,839,350(+) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for MDM2 Gene

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

Variant ID Type Subtype PubMed ID
esv1668742 CNV insertion 17803354
nsv1054112 CNV gain 25217958
nsv559219 CNV loss 21841781
nsv973089 CNV duplication 23825009

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)

Additional Variant Information for MDM2 Gene

Human Gene Mutation Database (HGMD)
MDM2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MDM2

SNP Genotyping and Copy Number Assay Products

Disorders for MDM2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
lessel-kubisch syndrome
  • lskb
accelerated tumor formation
  • accelerated tumor formation, susceptibility to
dedifferentiated liposarcoma
  • ddls
well-differentiated liposarcoma
  • pleomorphic lipoma
li-fraumeni syndrome
  • lfs
- 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.
  • Lessel-Kubisch syndrome (LSKB) [MIM:618681]: An autosomal recessive progeroid syndrome characterized by short stature, pinched facial features, prematurely gray hair, scleroderma-like skin changes, small kidneys and consecutive kidney failure, followed by severe arterial hypertension. {ECO:0000269 PubMed:28846075}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

Additional Disease Information for MDM2

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

No data available for Genatlas for MDM2 Gene

Publications for MDM2 Gene

  1. MdmX is a substrate for the deubiquitinating enzyme USP2a. (PMID: 19838211) Allende-Vega N … Saville MK (Oncogene 2010) 3 4 23
  2. Iron-dependent regulation of MDM2 influences p53 activity and hepatic carcinogenesis. (PMID: 20019189) Dongiovanni P … Valenti L (The American journal of pathology 2010) 3 23 41
  3. ATM activates p53 by regulating MDM2 oligomerization and E3 processivity. (PMID: 19816404) Cheng Q … Chen J (The EMBO journal 2009) 3 4 23
  4. Germline analysis of thymidine/guanidine polymorphism at position 309 of the Mdm2 promoter in malignant melanoma patients. (PMID: 19455066) Gluck I … Bar J (Melanoma research 2009) 3 23 41
  5. Risk of MDM2 SNP309 alone or in combination with the p53 codon 72 polymorphism in acute myeloid leukemia. (PMID: 19423162) Xiong X … Wang J (Leukemia research 2009) 3 23 41

Products for MDM2 Gene