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Gene Gene information from NCBI Gene database.
Entrez ID 4193
Gene name MDM2 proto-oncogene
Gene symbol MDM2
Synonyms (NCBI Gene)
ACTFSHDMXLSKBhdm2
Chromosome 12
Chromosome location 12q15
Summary 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. Overexpres
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs2279744 T>G Risk-factor Upstream transcript variant, genic upstream transcript variant, intron variant
rs1592602849 T>C Pathogenic Terminator codon variant, stop lost
miRNA miRNA information provided by mirtarbase database.
2895 Show/Hide all (2895)
miRTarBase ID miRNA Experiments Reference
MIRT006631 hsa-miR-32-5p Luciferase reporter assayqRT-PCRWestern blot 22431589
MIRT006631 hsa-miR-32-5p Luciferase reporter assayqRT-PCRWestern blot 22431589
MIRT006632 hsa-miR-25-3p Luciferase reporter assayqRT-PCRWestern blot 22431589
MIRT006632 hsa-miR-25-3p Luciferase reporter assayqRT-PCRWestern blot 22431589
MIRT007256 hsa-miR-143-3p Luciferase reporter assay 22330136
Transcription factors Transcription factors information provided by TRRUST V2 database.
26 Show/Hide all (26)
Transcription factor Regulation Reference
BRCA1 Activation 11256609
E2F1 Repression 20837136
ELF4 Unknown 23393136
ELL Repression 15851483
EP300 Unknown 11591713
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
148 Show/Hide all (148)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 9271120, 17310983
GO:0000209 Process Protein polyubiquitination TAS 23150757
GO:0001568 Process Blood vessel development IEA
GO:0001974 Process Blood vessel remodeling IEA
GO:0002027 Process Regulation of heart rate IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
164785 6973 ENSG00000135679
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q00987
Protein name E3 ubiquitin-protein ligase Mdm2 (EC 2.3.2.27) (Double minute 2 protein) (Hdm2) (Oncoprotein Mdm2) (RING-type E3 ubiquitin transferase Mdm2) (p53-binding protein Mdm2)
Protein function E3 ubiquitin-protein ligase that mediates ubiquitination of p53/TP53, leading to its degradation by the proteasome (PubMed:29681526). Inhibits p53/TP53- and p73/TP73-mediated cell cycle arrest and apoptosis by binding its transcriptional activat
PDB 1RV1 , 1T4E , 1T4F , 1YCR , 1Z1M , 2AXI , 2C6A , 2C6B , 2F1Y , 2FOP , 2GV2 , 2HDP , 2LZG , 2M86 , 2MPS , 2RUH , 2VJE , 2VJF , 3EQS , 3G03 , 3IUX , 3IWY , 3JZK , 3JZR , 3JZS , 3LBK , 3LBL , 3LNJ , 3LNZ , 3MQS , 3TJ2 , 3TPX , 3TU1 , 3V3B , 3VBG , 3VZV , 3W69 , 4DIJ , 4ERE , 4ERF , 4HBM , 4HFZ , 4HG7 , 4JV7 , 4JV9 , 4JVE , 4JVR , 4JWR , 4MDN , 4MDQ , 4OAS
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00641 zf-RanBP 299 → 328 Zn-finger in Ran binding protein and others Domain
PF02201 SWIB 26 → 101 SWIB/MDM2 domain Domain
PF13920 zf-C3HC4_3 434 → 485 Domain
Tissue specificity 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.
Sequence
MCNTNMSVPTDGAVTTSQIPASEQETLVRPKPLLLKLLKSVGAQKDTYTMKEVLFYLGQY
IMTKRLYDEKQQHIVYCSNDLLGDLFGVPSFSVKEHRKIYT
MIYRNLVVVNQQESSDSGT
SVSENRCHLEGGSDQKDLVQELQEEKPSSSHLVSRPSTSSRRRAISETEENSDELSGERQ
RKRHKSDSISLSFDESLALCVIREICCERSSSSESTGTPSNPDLDAGVSEHSGDWLDQDS
VSDQFSVEFEVESLDSEDYSLSEEGQELSDEDDEVYQVTVYQAGESDTDSFEEDPEISLA
DYWKCTSCNEMNPPLPSHCNRCWALREN
WLPEDKGKDKGEISEKAKLENSTQAEEGFDVP
DCKKTIVNDSRESCVEENDDKITQASQSQESEDYSQPSTSSSIIYSSQEDVKEFEREETQ
DKEESVESSLPLNAIEPCVICQGRPKNGCIVHGKTGHLMACFTCAKKLKKRNKPCPVCRQ
PIQMI
VLTYFP
Sequence length 491
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
Endocrine resistance AKT phosphorylates targets in the cytosol
Platinum drug resistance Oxidative Stress Induced Senescence
FoxO signaling pathway Oncogene Induced Senescence
Cell cycle SUMOylation of transcription factors
p53 signaling pathway SUMOylation of ubiquitinylation proteins
Ubiquitin mediated proteolysis Trafficking of AMPA receptors
Endocytosis Constitutive Signaling by AKT1 E17K in Cancer
PI3K-Akt signaling pathway Ub-specific processing proteases
Cellular senescence Regulation of TP53 Activity through Phosphorylation
C-type lectin receptor signaling pathway Regulation of TP53 Degradation
Thyroid hormone signaling pathway Regulation of TP53 Activity through Methylation
Shigellosis Stabilization of p53
Human cytomegalovirus infection Regulation of RUNX3 expression and activity
Human papillomavirus infection  
Epstein-Barr virus infection  
Pathways in cancer  
Transcriptional misregulation in cancer  
Viral carcinogenesis  
Proteoglycans in cancer  
MicroRNAs in cancer  
Glioma  
Prostate cancer  
Melanoma  
Bladder cancer  
Chronic myeloid leukemia  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
21
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Accelerated tumor formation, susceptibility to Likely pathogenic rs1592602849 RCV004813145
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lessel-kubisch syndrome Likely pathogenic rs1592602849 RCV000856714
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (19)
Phenotype Name Clinical Significance Source Reference Evidence Score
Acute myeloid leukemia Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS — CTD 26229107
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, NON-SMALL-CELL LUNG — CTD 19941079, 21268124
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (625)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
ABLEPHARON-MACROSTOMIA SYNDROME Ablepharon macrostomia syndrome BEFREE 30278484
★★★★★
★☆☆☆☆
Found in Text Mining only
Acoustic Neuroma Acoustic Neuroma BEFREE 24964769
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 18587015, 25754349, 30389549
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 11964305, 14559824, 16059649, 18483299, 19941740, 20935220, 23243057, 24968304, 25573381, 29282301, 8562942, 9842645
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 18548093, 25156865, 27369456, 29432785, 30575392, 7888679, 8898928
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute myelomonocytic leukemia Myelomonocytic Leukemia BEFREE 8898928
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 17620186, 18677542, 19383811, 30260777, 8053489, 8733770, 9155050
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 18559624
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 10392633, 11141476, 19302219, 23735059
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer BEFREE 10533452
★★★★★
★☆☆☆☆
Found in Text Mining only