CleftGeneDB-Search

Gene: MDM2

Basic information

Tag	Content
Uniprot ID	Q00987; A6NL51; A8K2S6; Q13226; Q13297; Q13298; Q13299; Q13300; Q13301; Q53XW0; Q71TW9; Q8WYJ1; Q8WYJ2; Q9UGI3; Q9UMT8;
Entrez ID	4193
Genbank protein ID	AAA75516.1; AAA75514.1; BAF83030.1; AAL40179.1; AAF42995.1; AAM78554.1; AAA82061.1; AAA82237.1; AAA60568.1; AAL40180.1; AAA75518.1; AAP35922.1; CAB64448.1; CAA78055.1; AAA75517.1; AAA75515.1;
Genbank nucleotide ID	XM_006719399.3; NM_001278462.1; XM_005268872.4; NM_001145339.2; NM_002392.5;
Ensembl protein ID	ENSP00000353611; ENSP00000258149; ENSP00000444430; ENSP00000377065; ENSP00000299252;
Ensembl nucleotide ID	ENSG00000135679
Gene name	E3 ubiquitin-protein ligase Mdm2
Gene symbol	MDM2
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	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).
Sequence	MCNTNMSVPT DGAVTTSQIP ASEQETLVRP KPLLLKLLKS VGAQKDTYTM KEVLFYLGQY 60 IMTKRLYDEK QQHIVYCSND LLGDLFGVPS FSVKEHRKIY TMIYRNLVVV NQQESSDSGT 120 SVSENRCHLE GGSDQKDLVQ ELQEEKPSSS HLVSRPSTSS RRRAISETEE NSDELSGERQ 180 RKRHKSDSIS LSFDESLALC VIREICCERS SSSESTGTPS NPDLDAGVSE HSGDWLDQDS 240 VSDQFSVEFE VESLDSEDYS LSEEGQELSD EDDEVYQVTV YQAGESDTDS FEEDPEISLA 300 DYWKCTSCNE MNPPLPSHCN RCWALRENWL PEDKGKDKGE ISEKAKLENS TQAEEGFDVP 360 DCKKTIVNDS RESCVEENDD KITQASQSQE SEDYSQPSTS SSIIYSSQED VKEFEREETQ 420 DKEESVESSL PLNAIEPCVI CQGRPKNGCI VHGKTGHLMA CFTCAKKLKK RNKPCPVCRQ 480 PIQMIVLTYF P 491

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

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PDB ID
1RV1
1T4E
1T4F
1YCR
1Z1M

Showing 1 to 5 of 115 entries

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Protein disorder information

Orthologous information

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Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	Mdm2	17246	P23804	CPO	Mus musculus	Publication	More>>
1:1 ortholog	MDM2	540378	F1MYE6		Bos taurus	Prediction	More>>
1:1 ortholog	MDM2	102173163	A0A452FBR9		Capra hircus	Prediction	More>>
1:1 ortholog	MDM2	4193	Q00987		Homo sapiens	Prediction	More>>
1:1 ortholog	MDM2	742141	A0A2I3TD93		Pan troglodytes	Prediction	More>>
1:1 ortholog	Mdm2	314856	A0A0G2JVC1		Rattus norvegicus	Prediction	More>>
1:1 ortholog	mdm2		B0R0S9		Danio rerio	Prediction	More>>

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Other genetic variants/mutations

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ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs991848363	p.Ala13Val	missense variant	-	NC_000012.12:g.68809249C>T	TOPMed,gnomAD
rs1385829631	p.Arg65Gln	missense variant	-	NC_000012.12:g.68816849G>A	TOPMed,gnomAD
rs1392233926	p.Gly227Ala	missense variant	-	NC_000012.12:g.68835842G>C	TOPMed,gnomAD
rs1300121209	p.Asp270Glu	missense variant	-	NC_000012.12:g.68835972T>A	TOPMed,gnomAD
rs1237701932	p.Glu348Gly	missense variant	-	NC_000012.12:g.68839416A>G	TOPMed,gnomAD
rs1407906280	p.Thr365Ile	missense variant	-	NC_000012.12:g.68839467C>T	TOPMed,gnomAD
rs1261148726	p.Asp393Gly	missense variant	-	NC_000012.12:g.68839551A>G	TOPMed,gnomAD
rs1261148726	p.Asp393Val	missense variant	-	NC_000012.12:g.68839551A>T	TOPMed,gnomAD
rs1293117772	p.Ser395Phe	missense variant	-	NC_000012.12:g.68839557C>T	TOPMed,gnomAD
rs1292651740	p.Glu417Gln	missense variant	-	NC_000012.12:g.68839622G>C	TOPMed,gnomAD
rs1376586613	p.Ser429Arg	missense variant	-	NC_000012.12:g.68839660T>G	TOPMed,gnomAD
rs1044633873	p.Asn472His	missense variant	-	NC_000012.12:g.68839787A>C	TOPMed,gnomAD
rs1183704933	p.Val14Gly	missense variant	-	NC_000012.12:g.68809252T>G	TOPMed
rs1246173207	p.Glu25Gln	missense variant	-	NC_000012.12:g.68809284G>C	TOPMed
rs1470334779	p.Val28Ile	missense variant	-	NC_000012.12:g.68813554G>A	TOPMed
rs1267194269	p.Gly119Arg	missense variant	-	NC_000012.12:g.68824377G>C	TOPMed
rs1318570880	p.Gly132Arg	missense variant	-	NC_000012.12:g.68824416G>C	TOPMed
rs1227694909	p.Asp134Val	missense variant	-	NC_000012.12:g.68824423A>T	TOPMed
rs1189496985	p.Glu141Asp	missense variant	-	NC_000012.12:g.68824569G>T	TOPMed
rs1225544458	p.His151Arg	missense variant	-	NC_000012.12:g.68824598A>G	TOPMed

Showing 1 to 20 of 215 entries

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Disease or phenotype associated information

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Disease ID	Disease Name	Disease Type	Source
C0001418	Adenocarcinoma	group	BEFREE;LHGDN
C0001430	Adenoma	group	BEFREE
C0001486	Adenovirus Infections	group	BEFREE
C0001618	Tumors of Adrenal Cortex	group	HPO
C0002395	Alzheimer's Disease	disease	BEFREE
C0003850	Arteriosclerosis	disease	BEFREE
C0003857	Congenital arteriovenous malformation	disease	BEFREE
C0003873	Rheumatoid Arthritis	disease	BEFREE;LHGDN
C0004114	Astrocytoma	disease	BEFREE
C0004135	Ataxia Telangiectasia	disease	BEFREE
C0004153	Atherosclerosis	disease	BEFREE
C0004277	Tooth Attrition	phenotype	BEFREE
C0004364	Autoimmune Diseases	group	BEFREE
C0004763	Barrett Esophagus	disease	BEFREE
C0005684	Malignant neoplasm of urinary bladder	disease	BEFREE
C0005695	Bladder Neoplasm	group	BEFREE;LHGDN
C0005699	Blast Phase	disease	BEFREE
C0005859	Bloom Syndrome	disease	BEFREE
C0005967	Bone neoplasms	group	BEFREE
C0006118	Brain Neoplasms	group	BEFREE

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

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GO ID	GO Term	Evidence
GO:0002039	p53 binding	IPI
GO:0004842	ubiquitin-protein transferase activity	IMP
GO:0004842	ubiquitin-protein transferase activity	IDA
GO:0005515	protein binding	IPI
GO:0008097	5S rRNA binding	IDA
GO:0008270	zinc ion binding	IDA
GO:0016874	ligase activity	IDA
GO:0019789	SUMO transferase activity	EXP
GO:0019899	enzyme binding	IPI
GO:0019904	protein domain specific binding	IPI
GO:0031625	ubiquitin protein ligase binding	IPI
GO:0033612	receptor serine/threonine kinase binding	IEA
GO:0042802	identical protein binding	IPI
GO:0042975	peroxisome proliferator activated receptor binding	IEA
GO:0043021	ribonucleoprotein complex binding	IDA
GO:0043130	ubiquitin binding	IDA
GO:0047485	protein N-terminus binding	IPI
GO:0061630	ubiquitin protein ligase activity	IDA
GO:0061630	ubiquitin protein ligase activity	IMP
GO:0061630	ubiquitin protein ligase activity	TAS

Showing 1 to 20 of 23 entries

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GO:Biological Process

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GO ID	GO Term	Evidence
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA
GO:0000209	protein polyubiquitination	TAS
GO:0001568	blood vessel development	IEA
GO:0001974	blood vessel remodeling	IEA
GO:0002027	regulation of heart rate	IEA
GO:0003181	atrioventricular valve morphogenesis	IEA
GO:0003203	endocardial cushion morphogenesis	IEA
GO:0003281	ventricular septum development	IEA
GO:0003283	atrial septum development	IEA
GO:0006511	ubiquitin-dependent protein catabolic process	IDA
GO:0006511	ubiquitin-dependent protein catabolic process	IMP
GO:0006511	ubiquitin-dependent protein catabolic process	IGI
GO:0006977	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	IMP
GO:0006977	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	TAS
GO:0007089	traversing start control point of mitotic cell cycle	IEA
GO:0008284	positive regulation of cell population proliferation	TAS
GO:0010039	response to iron ion	IEA
GO:0010628	positive regulation of gene expression	IEA
GO:0010955	negative regulation of protein processing	IEA
GO:0010977	negative regulation of neuron projection development	IEA

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GO:Cellular Component

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GO ID	GO Term	Evidence
GO:0005634	nucleus	IDA
GO:0005634	nucleus	IMP
GO:0005654	nucleoplasm	IDA
GO:0005654	nucleoplasm	TAS
GO:0005730	nucleolus	IDA
GO:0005730	nucleolus	IMP
GO:0005737	cytoplasm	IMP
GO:0005829	cytosol	TAS
GO:0005886	plasma membrane	TAS
GO:0016604	nuclear body	IDA
GO:0030666	endocytic vesicle membrane	TAS
GO:0032991	protein-containing complex	IMP
GO:0032991	protein-containing complex	IDA
GO:0045202	synapse	IEA

Showing 1 to 14 of 14 entries

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Reactome Pathway

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Reactome ID	Reactome Term	Evidence
R-HSA-112314	Neurotransmitter receptors and postsynaptic signal transmission	TAS
R-HSA-112315	Transmission across Chemical Synapses	TAS
R-HSA-112316	Neuronal System	TAS
R-HSA-1257604	PIP3 activates AKT signaling	TAS
R-HSA-162582	Signal Transduction	TAS
R-HSA-1640170	Cell Cycle	TAS
R-HSA-1643685	Disease	TAS
R-HSA-198323	AKT phosphorylates targets in the cytosol	TAS
R-HSA-212436	Generic Transcription Pathway	TAS
R-HSA-2219528	PI3K/AKT Signaling in Cancer	TAS
R-HSA-2262752	Cellular responses to stress	TAS
R-HSA-2559580	Oxidative Stress Induced Senescence	TAS
R-HSA-2559583	Cellular Senescence	TAS
R-HSA-2559585	Oncogene Induced Senescence	TAS
R-HSA-2990846	SUMOylation	TAS
R-HSA-3108232	SUMO E3 ligases SUMOylate target proteins	TAS
R-HSA-3232118	SUMOylation of transcription factors	TAS
R-HSA-3232142	SUMOylation of ubiquitinylation proteins	TAS
R-HSA-3700989	Transcriptional Regulation by TP53	TAS
R-HSA-392499	Metabolism of proteins	TAS

Showing 1 to 20 of 43 entries

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Drugs and compounds information

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ID	Drug Name	Action	PubMed
C000593030	GSK-J4	GSK-J4 results in increased expression of MDM2 mRNA	29301935
C000618691	LQFM030	LQFM030 results in decreased expression of MDM2 protein	27350017
C000618691	LQFM030	LQFM030 results in increased expression of MDM2 mRNA	27350017
C000622638	MLN7243	MLN7243 results in increased sumoylation of MDM2 protein	31285264
C000628228	LQFM166	LQFM166 inhibits the reaction [TRP53 protein binds to MDM2 protein]	30057354
C001082	diphenylcresyl phosphate	diphenylcresyl phosphate results in increased expression of MDM2 mRNA	30981936
C001087	diphenyl methyl phosphate	diphenyl methyl phosphate results in increased expression of MDM2 mRNA	30981936
C001277	geldanamycin	geldanamycin results in increased expression of MDM2 mRNA	26705709
C002741	N-nitrosomorpholine	N-nitrosomorpholine results in increased expression of MDM2 mRNA	19716841
C002741	N-nitrosomorpholine	N-nitrosomorpholine results in increased expression of MDM2 protein	14587038
C002994	ethylene dimethanesulfonate	ethylene dimethanesulfonate results in increased expression of MDM2 mRNA	22711419
C003466	thymoquinone	thymoquinone results in decreased expression of MDM2 protein	31433961
C004656	chloroacetaldehyde	chloroacetaldehyde results in increased expression of MDM2 mRNA	25596134
C004925	methylmercuric chloride	methylmercuric chloride results in increased expression of MDM2 mRNA	28001369
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of MDM2 mRNA	23202902
C005223	methyleugenol	methyleugenol results in increased expression of MDM2 mRNA	26011634
C005556	propionaldehyde	propionaldehyde results in increased expression of MDM2 mRNA	26079696
C006253	pirinixic acid	MDM2 protein affects the reaction [pirinixic acid results in increased activity of PPARA protein]	19103650
C006253	pirinixic acid	MDM2 protein promotes the reaction [[pirinixic acid results in increased activity of PPARA protein] which results in increased expression of ACOX1 mRNA]	19103650
C006253	pirinixic acid	MDM2 protein promotes the reaction [[pirinixic acid results in increased activity of PPARA protein] which results in increased expression of ANGPTL4 mRNA]	19103650

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Functional annotations

Keywords

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Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0025	Alternative splicing
KW-0479	Metal-binding
KW-0539	Nucleus
KW-0597	Phosphoprotein
KW-0656	Proto-oncogene
KW-0808	Transferase
KW-0832	Ubl conjugation
KW-0833	Ubl conjugation pathway
KW-0862	Zinc
KW-0863	Zinc-finger
KW-0945	Host-virus interaction
KW-0963	Cytoplasm
KW-1185	Reference proteome

Showing 1 to 14 of 14 entries

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Interpro

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InterPro ID	InterPro Term
IPR001841	Znf_RING
IPR001876	Znf_RanBP2
IPR003121	SWIB_MDM2_domain
IPR013083	Znf_RING/FYVE/PHD
IPR015459	MDM2_E3_ligase
IPR016495	p53_neg-reg_MDM_2/4
IPR028340	Mdm2
IPR036443	Znf_RanBP2_sf
IPR036885	SWIB_MDM2_dom_sf

Showing 1 to 9 of 9 entries

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PROSITE

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PROSITE ID	PROSITE Term
PS01358	ZF_RANBP2_1
PS50089	ZF_RING_2
PS50199	ZF_RANBP2_2

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Pfam

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Pfam ID	Pfam Term
PF00641	zf-RanBP
PF02201	SWIB

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Gene: MDM2

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction