Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4193
Gene name Gene Name - the full gene name approved by the HGNC.
MDM2 proto-oncogene
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MDM2
Synonyms (NCBI Gene) Gene synonyms aliases
ACTFS, HDMX, LSKB, hdm2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
LSKB
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q15
Summary Summary of gene provided in NCBI Entrez 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. Overexpres
SNPs SNP information provided by dbSNP.
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.
miRTarBase ID miRNA Experiments Reference
MIRT006631 hsa-miR-32-5p Luciferase reporter assay, qRT-PCR, Western blot 22431589
MIRT006631 hsa-miR-32-5p Luciferase reporter assay, qRT-PCR, Western blot 22431589
MIRT006632 hsa-miR-25-3p Luciferase reporter assay, qRT-PCR, Western blot 22431589
MIRT006632 hsa-miR-25-3p Luciferase reporter assay, qRT-PCR, Western blot 22431589
MIRT007256 hsa-miR-143-3p Luciferase reporter assay 22330136
Transcription factors
Transcription factor Regulation Reference
BRCA1 Activation 11256609
E2F1 Repression 20837136
ELF4 Unknown 23393136
ELL Repression 15851483
EP300 Unknown 11591713
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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:0001228 Function DNA-binding transcription activator activity, RNA polymerase II-specific IBA 21873635
GO:0002039 Function P53 binding IPI 9529249, 15053879, 20173098, 25417702
GO:0004842 Function Ubiquitin-protein transferase activity IDA 9450543
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
164785 6973 ENSG00000135679
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
26229107
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451
View all (71 more)
26229107
Colonic neoplasms Colonic Neoplasms rs267607789, rs774277300, rs781222233, rs1060502734, rs1060503333, rs1339238483
Colorectal cancer Adenocarcinoma of large intestine rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800
View all (467 more)
Unknown
Disease term Disease name Evidence References Source
Li-Fraumeni Syndrome Li-Fraumeni syndrome GenCC
Associations from Text Mining
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