ENSG00000135679


Homo sapiens

Features
Gene ID: ENSG00000135679
  
Biological name :MDM2
  
Synonyms : MDM2 / MDM2 proto-oncogene / Q00987
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: 1
Band: q15
Gene start: 68808176
Gene end: 68850686
  
Corresponding Affymetrix probe sets: 205385_at (Human Genome U133 Plus 2.0 Array)   205386_s_at (Human Genome U133 Plus 2.0 Array)   211832_s_at (Human Genome U133 Plus 2.0 Array)   217373_x_at (Human Genome U133 Plus 2.0 Array)   217542_at (Human Genome U133 Plus 2.0 Array)   225160_x_at (Human Genome U133 Plus 2.0 Array)   229711_s_at (Human Genome U133 Plus 2.0 Array)   237891_at (Human Genome U133 Plus 2.0 Array)   238733_at (Human Genome U133 Plus 2.0 Array)   244616_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000431110
Ensembl peptide - ENSP00000439238
Ensembl peptide - ENSP00000445222
Ensembl peptide - ENSP00000445030
Ensembl peptide - ENSP00000444597
Ensembl peptide - ENSP00000444566
Ensembl peptide - ENSP00000444430
Ensembl peptide - ENSP00000444028
Ensembl peptide - ENSP00000443450
Ensembl peptide - ENSP00000441841
Ensembl peptide - ENSP00000258148
Ensembl peptide - ENSP00000258149
Ensembl peptide - ENSP00000266624
Ensembl peptide - ENSP00000299252
Ensembl peptide - ENSP00000310742
Ensembl peptide - ENSP00000335096
Ensembl peptide - ENSP00000353611
Ensembl peptide - ENSP00000377062
Ensembl peptide - ENSP00000377064
Ensembl peptide - ENSP00000377065
Ensembl peptide - ENSP00000377067
Ensembl peptide - ENSP00000377068
Ensembl peptide - ENSP00000410694
Ensembl peptide - ENSP00000427828
Ensembl peptide - ENSP00000429021
Ensembl peptide - ENSP00000429692
Ensembl peptide - ENSP00000430257
Ensembl peptide - ENSP00000430906
NCBI entrez gene - 4193     See in Manteia.
OMIM - 164785
RefSeq - XM_006719400
RefSeq - NM_001145337
RefSeq - NM_001145339
RefSeq - NM_001145340
RefSeq - NM_001278462
RefSeq - NM_002392
RefSeq - XM_005268872
RefSeq - XM_006719399
RefSeq Peptide - NP_002383
RefSeq Peptide - NP_001138809
RefSeq Peptide - NP_001138811
RefSeq Peptide - NP_001138812
RefSeq Peptide - NP_001265391
swissprot - G3XA89
swissprot - J3KN53
swissprot - J3QST1
swissprot - Q8TE47
swissprot - Q96DS5
swissprot - Q9H4C3
swissprot - Q9H4C5
swissprot - E7EPE2
swissprot - Q00987
swissprot - Q8NDW1
swissprot - E7EMW5
swissprot - E5RJQ0
swissprot - E5RHE2
swissprot - A7UKY0
swissprot - A7UKX8
swissprot - A0A1B0GXJ6
swissprot - F5GWH7
swissprot - A0A0C4DFR5
swissprot - F5GZB0
swissprot - F5GZC3
swissprot - F5H1M7
swissprot - F5H4Q8
Ensembl - ENSG00000135679
  
Related genetic diseases (OMIM): 614401 - {Accelerated tumor formation, susceptibility to}, 614401
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 mdm2ENSDARG00000033443Danio rerio
 MDM2ENSGALG00000009942Gallus gallus
 Mdm2ENSMUSG00000020184Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
MDM4 / O15151 / MDM4, p53 regulatorENSG0000019862523


Protein motifs (from Interpro)
Interpro ID Name
 IPR001841  Zinc finger, RING-type
 IPR001876  Zinc finger, RanBP2-type
 IPR003121  SWIB/MDM2 domain
 IPR013083  Zinc finger, RING/FYVE/PHD-type
 IPR015459  Ubiquitin-protein ligase E3 MDM2
 IPR016495  p53 negative regulator Mdm2/Mdm4
 IPR028340  E3 ubiquitin-protein ligase Mdm2
 IPR036443  Zinc finger, RanBP2-type superfamily
 IPR036885  SWIB/MDM2 domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IEA
 biological_processGO:0001568 blood vessel development IEA
 biological_processGO:0001974 blood vessel remodeling IEA
 biological_processGO:0002027 regulation of heart rate IEA
 biological_processGO:0003170 heart valve development IEA
 biological_processGO:0003181 atrioventricular valve morphogenesis IEA
 biological_processGO:0003203 endocardial cushion morphogenesis IEA
 biological_processGO:0003281 ventricular septum development IEA
 biological_processGO:0003283 atrial septum development IEA
 biological_processGO:0006511 ubiquitin-dependent protein catabolic process IGI
 biological_processGO:0006977 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest IMP
 biological_processGO:0007089 traversing start control point of mitotic cell cycle IEA
 biological_processGO:0007507 heart development IEA
 biological_processGO:0008284 positive regulation of cell proliferation TAS
 biological_processGO:0009636 response to toxic substance IEA
 biological_processGO:0010039 response to iron ion IEA
 biological_processGO:0010468 regulation of gene expression IEA
 biological_processGO:0010628 positive regulation of gene expression IEA
 biological_processGO:0010629 negative regulation of gene expression IEA
 biological_processGO:0010955 negative regulation of protein processing IEA
 biological_processGO:0010977 negative regulation of neuron projection development IEA
 biological_processGO:0016032 viral process IEA
 biological_processGO:0016567 protein ubiquitination IEA
 biological_processGO:0016579 protein deubiquitination TAS
 biological_processGO:0016925 protein sumoylation IEA
 biological_processGO:0018205 peptidyl-lysine modification IMP
 biological_processGO:0031648 protein destabilization IDA
 biological_processGO:0032026 response to magnesium ion IEA
 biological_processGO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process IDA
 biological_processGO:0034504 protein localization to nucleus IDA
 biological_processGO:0036369 transcription factor catabolic process TAS
 biological_processGO:0042176 regulation of protein catabolic process IDA
 biological_processGO:0042220 response to cocaine IEA
 biological_processGO:0042493 response to drug IEA
 biological_processGO:0043066 negative regulation of apoptotic process IEA
 biological_processGO:0043154 negative regulation of cysteine-type endopeptidase activity involved in apoptotic process IEA
 biological_processGO:0043278 response to morphine IEA
 biological_processGO:0043491 protein kinase B signaling TAS
 biological_processGO:0043518 negative regulation of DNA damage response, signal transduction by p53 class mediator IDA
 biological_processGO:0045184 establishment of protein localization IDA
 biological_processGO:0045472 response to ether IEA
 biological_processGO:0045787 positive regulation of cell cycle IEA
 biological_processGO:0045892 negative regulation of transcription, DNA-templated IMP
 biological_processGO:0045931 positive regulation of mitotic cell cycle IMP
 biological_processGO:0046677 response to antibiotic IEP
 biological_processGO:0046827 positive regulation of protein export from nucleus IEA
 biological_processGO:0048545 response to steroid hormone IEA
 biological_processGO:0051603 proteolysis involved in cellular protein catabolic process IMP
 biological_processGO:0051865 protein autoubiquitination IMP
 biological_processGO:0060411 cardiac septum morphogenesis IEA
 biological_processGO:0065003 protein-containing complex assembly IDA
 biological_processGO:0070301 cellular response to hydrogen peroxide IEA
 biological_processGO:0071157 negative regulation of cell cycle arrest IEA
 biological_processGO:0071236 cellular response to antibiotic IEA
 biological_processGO:0071301 cellular response to vitamin B1 IEA
 biological_processGO:0071310 cellular response to organic substance IEA
 biological_processGO:0071312 cellular response to alkaloid IEA
 biological_processGO:0071363 cellular response to growth factor stimulus IEA
 biological_processGO:0071375 cellular response to peptide hormone stimulus IEA
 biological_processGO:0071391 cellular response to estrogen stimulus IEA
 biological_processGO:0071407 cellular response to organic cyclic compound IEA
 biological_processGO:0071456 cellular response to hypoxia IEP
 biological_processGO:0071480 cellular response to gamma radiation IDA
 biological_processGO:0071494 cellular response to UV-C IEA
 biological_processGO:0072717 cellular response to actinomycin D IDA
 biological_processGO:1901796 regulation of signal transduction by p53 class mediator TAS
 biological_processGO:1901797 negative regulation of signal transduction by p53 class mediator IDA
 biological_processGO:1902254 negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator IMP
 biological_processGO:1904404 response to formaldehyde IEA
 biological_processGO:1904707 positive regulation of vascular smooth muscle cell proliferation IEA
 biological_processGO:1904754 positive regulation of vascular associated smooth muscle cell migration IEA
 biological_processGO:1990000 amyloid fibril formation IMP
 biological_processGO:1990785 response to water-immersion restraint stress IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005730 nucleolus IMP
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0016604 nuclear body IDA
 cellular_componentGO:0030666 endocytic vesicle membrane TAS
 cellular_componentGO:0032991 protein-containing complex IDA
 cellular_componentGO:0045202 synapse IEA
 molecular_functionGO:0002039 p53 binding IPI
 molecular_functionGO:0004842 ubiquitin-protein transferase activity IMP
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0008097 5S rRNA binding IDA
 molecular_functionGO:0008270 zinc ion binding IDA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0016874 ligase activity IDA
 molecular_functionGO:0019789 SUMO transferase activity EXP
 molecular_functionGO:0019899 enzyme binding IPI
 molecular_functionGO:0019904 protein domain specific binding IPI
 molecular_functionGO:0031625 ubiquitin protein ligase binding IPI
 molecular_functionGO:0042802 identical protein binding IPI
 molecular_functionGO:0042975 peroxisome proliferator activated receptor binding IEA
 molecular_functionGO:0043021 ribonucleoprotein complex binding IDA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0047485 protein N-terminus binding IPI
 molecular_functionGO:0061630 ubiquitin protein ligase activity IDA
 molecular_functionGO:0061663 NEDD8 ligase activity IMP
 molecular_functionGO:0097110 scaffold protein binding IEA
 molecular_functionGO:0097718 disordered domain specific binding IPI


Pathways (from Reactome)
Pathway description
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


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0001482 Subcutaneous nodules 
Show

 HP:0002448 Encephalopathy, progressive 
Show

 HP:0002579 Gastrointestinal dysmotility 
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 HP:0002665 Lymphoma "A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells." [HPO:curators]
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 HP:0002669 Osteogenic sarcoma 
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 HP:0002861 Malignant melanoma "A malignant skin tumor of originating from melanocytes, pigment cells normally present in the epidermis and sometimes in the dermis." [HPO:curators]
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 HP:0002894 Pancreatic cancer 
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 HP:0003002 Breast cancer 
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 HP:0004375 Neoplasia of the nervous system 
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 HP:0008069 Neoplasia of the skin 
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 HP:0012211 Abnormal renal physiology "Any functional anomaly of the `kidney` (FMA:7203)." [HPO:probinson]
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 HP:0100273 Neoplasia of the colon 
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 HP:0100641 Cortical adrenal neoplasia 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000118515 SGK1 / O00141 / serum/glucocorticoid regulated kinase 1  / reaction
 ENSG00000132535 DLG4 / P78352 / discs large MAGUK scaffold protein 4  / complex
 ENSG00000135679 MDM2 / Q00987 / MDM2 proto-oncogene  / complex / reaction
 ENSG00000020633 RUNX3 / Q13761 / runt related transcription factor 3  / complex / reaction
 ENSG00000078304 Q13362 / PPP2R5C / protein phosphatase 2 regulatory subunit Bgamma  / reaction / complex
 ENSG00000103275 UBE2I / P63279 / ubiquitin conjugating enzyme E2 I  / reaction
 ENSG00000006116 CACNG3 / O60359 / calcium voltage-gated channel auxiliary subunit gamma 3  / complex
 ENSG00000113328 CCNG1 / P51959 / cyclin G1  / complex / reaction
 ENSG00000166862 CACNG2 / Q9Y698 / calcium voltage-gated channel auxiliary subunit gamma 2  / complex
 ENSG00000075461 CACNG4 / Q9UBN1 / calcium voltage-gated channel auxiliary subunit gamma 4  / complex
 ENSG00000116030 SUMO1 / P63165 / small ubiquitin-like modifier 1  / reaction / complex
 ENSG00000142408 CACNG8 / Q8WXS5 / calcium voltage-gated channel auxiliary subunit gamma 8  / complex
 ENSG00000141510 TP53 / P04637 / tumor protein p53  / reaction / complex
 ENSG00000036672 USP2 / O75604 / ubiquitin specific peptidase 2  / complex / reaction
 ENSG00000123374 CDK2 / P24941 / cyclin dependent kinase 2  / reaction
 ENSG00000204209 DAXX / Q9UER7 / death domain associated protein  / reaction / complex
 ENSG00000147889 CDKN2A / P42771 / Q8N726 / cyclin dependent kinase inhibitor 2A  / reaction / complex
 ENSG00000149311 ATM / Q13315 / ATM serine/threonine kinase  / reaction
 ENSG00000170312 CDK1 / P06493 / cyclin dependent kinase 1  / reaction
 ENSG00000183765 CHEK2 / O96017 / checkpoint kinase 2  / reaction
 ENSG00000142208 AKT1 / P31749 / AKT serine/threonine kinase 1  / reaction
 ENSG00000187555 USP7 / Q93009 / ubiquitin specific peptidase 7  / reaction / complex
 ENSG00000198625 MDM4 / O15151 / MDM4, p53 regulator  / reaction / complex






 

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