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
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
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
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
PF02201 SWIB 26 101 SWIB/MDM2 domain Domain
PF00641 zf-RanBP 299 328 Zn-finger in Ran binding protein and others 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  Reactome
  Endocrine resistance
Platinum drug resistance
FoxO signaling pathway
Cell cycle
p53 signaling pathway
Ubiquitin mediated proteolysis
Endocytosis
PI3K-Akt signaling pathway
Cellular senescence
C-type lectin receptor signaling pathway
Thyroid hormone signaling pathway
Shigellosis
Human cytomegalovirus infection
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
  AKT phosphorylates targets in the cytosol
Oxidative Stress Induced Senescence
Oncogene Induced Senescence
SUMOylation of transcription factors
SUMOylation of ubiquitinylation proteins
Trafficking of AMPA receptors
Constitutive Signaling by AKT1 E17K in Cancer
Ub-specific processing proteases
Regulation of TP53 Activity through Phosphorylation
Regulation of TP53 Degradation
Regulation of TP53 Activity through Methylation
Stabilization of p53
Regulation of RUNX3 expression and activity
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
169
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Accelerated tumor formation, susceptibility to Likely pathogenic rs1592602849 RCV004813145
Lessel-kubisch syndrome Likely pathogenic rs1592602849 RCV000856714
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs56410897 RCV005896918
Adrenocortical carcinoma, hereditary Likely benign rs376611439 RCV005912860
Cervical cancer Likely benign rs767491109 RCV005935035
Clear cell carcinoma of kidney Uncertain significance rs770653304 RCV005909134
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Actinic cheilitis Associate 19082401
Adenoameloblastoma Associate 22842367
Adenocarcinoma Associate 17620186, 20724842, 20922573, 24324286, 27228500, 27246533, 30260777, 35078243, 35377946, 9155050
Adenocarcinoma Mucinous Associate 10851351, 27509966, 32859641
Adenocarcinoma Of Esophagus Associate 11141476
Adenocarcinoma of Lung Associate 26418953, 26992220, 27228500, 37182602
Adenoma Oxyphilic Associate 11786411
Adenoma Pleomorphic Associate 11839563, 9723034
Adenomyosis Stimulate 27924072
Adenosarcoma Associate 28267263, 36138078