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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

MDM4 Gene

protein-coding GIFtS: 61
GCID: GC01P204486

Mdm4 p53 binding protein homolog (mouse)

(Previous names: mouse double minute 4, human homolog of; p53-binding protein,...)

Explore 32 diseases affiliated with
MDM4 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Mdm4 P53 Binding Protein Homolog (Mouse)¹ ²		MRP1²
MDMX¹ ² ³		Double Minute 4, Human Homolog Of; P53-Binding Protein²
Mdm2-Like P53-Binding Protein² ³		Mdm4, Transformed 3T3 Cell Double Minute 4, P53 Binding Protein²
Protein Mdmx² ³		MDM4-Related Protein 1²
Mdm4, Transformed 3T3 Cell Double Minute 4, P53 Binding Protein (Mouse)¹		Protein Mdm4²
Mouse Double Minute 4, Human Homolog Of; P53-Binding Protein¹		Double Minute 4 Protein³
HDMX²		P53-Binding Protein Mdm4³

External Ids:	HGNC: 6974¹	Entrez Gene: 4194²	Ensembl: ENSG00000198625⁷	OMIM: 602704⁵	UniProtKB: O15151³

ORGUL members:
	NONCODE:n406642

Export aliases for MDM4 gene to outside databases

Previous GC identifers: GC01P202211 GC01P199946 GC01P200846 GC01P201662 GC01P201629 GC01P201217 GC01P202752 GC01P175650

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MDM4:

This gene encodes a nuclear protein that contains a p53 binding domain at the N-terminus and a RING finger domain at

the C-terminus, and shows structural similarity to p53-binding protein MDM2. Both proteins bind the p53 tumor

suppressor protein and inhibit its activity, and have been shown to be overexpressed in a variety of human cancers.

However, unlike MDM2 which degrades p53, this protein inhibits p53 by binding its transcriptional activation domain.

This protein also interacts with MDM2 protein via the RING finger domain, and inhibits the latter's degradation. So

this protein can reverse MDM2-targeted degradation of p53, while maintaining suppression of p53 transactivation and

apoptotic functions. Alternatively spliced transcript variants encoding different isoforms have been noted for this

gene. (provided by RefSeq, Feb 2011)

UniProtKB/Swiss-Prot: MDM4_HUMAN, O15151

Function: Inhibits p53/TP53- and TP73/p73-mediated cell cycle arrest and apoptosis by binding its transcriptional

activation domain. Inhibits degradation of MDM2. Can reverse MDM2-targeted degradation of TP53 while maintaining

suppression of TP53 transactivation and apoptotic functions

Gene Wiki entry for MDM4

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000001.10 NC_018912.1 NT_004487.19

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the MDM4 gene promoter:
HEN1 TBP MZF-1 PPAR-alpha Elk-1 NRF-2 c-Ets-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): MDM4 promoter sequence

Search SABiosciences Chromatin IP Primers for MDM4

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MDM4

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q32 Ensembl cytogenetic band: 1q32.1 HGNC cytogenetic band: 1q32

MDM4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MDM4 gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01P204486: view genomic region (about GC identifiers)

Start:	204,485,511 bp from pter	End:	204,542,871 bp from pter
Size:	57,361 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: MDM4_HUMAN, O15151 (See protein sequence)

Recommended Name: Protein Mdm4

Size: 490 amino acids; 54864 Da

Subunit: Interacts with MDM2, TP53, TP73 and USP2. Found in a trimeric complex with UPB2, MDM2 and MDM4. Interacts

(phosphorylated) with YWHAG; negatively regulates MDM4 activity toward TP53

Subcellular location: Nucleus

Mass spectrometry: Mass=54863.3; Method=MALDI; Range=1-490; Source=PubMed:11840567;

6/14 PDB 3D structures from and Proteopedia for MDM4 (see all 14):

2CR8 (3D)

2VJE (3D)

2VJF (3D)

2VYR (3D)

3DAB (3D)

3EQY (3D)

Secondary accessions: Q2M2Y2 Q32SL2 Q6GS18 Q8IV83

Alternative splicing: 5 isoforms: O15151-1 O15151-2 O15151-3 O15151-4 O15151-5 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MDM4: NX_O15151

Post-translational modifications:

Phosphorylated. Phosphorylation at Ser-367 promotes interaction with YWHAG and subsequent ubiquitination and

degradation. Phosphorylation at Ser-342 also induces ubiquitination and degradation but to a lower extent¹

Ubiquitinated and degraded by MDM2. Deubiquitination by USP2 on the other hand stabilizes the MDM4 protein¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O15151

MDM4 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (3 alternative transcripts):

NP_001191100.1 NP_001191101.1 NP_002384.2

ENSEMBL proteins:

ENSP00000356150 ENSP00000356148 ENSP00000356147 ENSP00000395254 ENSP00000443816

ENSP00000396840 ENSP00000356151 ENSP00000375811

Human Recombinant Protein Products for MDM4:

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	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for MDM4

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	NAS	9226370

MDM4 for ontologies About GeneDecksing

MDM4 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of MDM4
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	ThermoFisher Antibody for MDM4

Assay Products for MDM4:

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	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for MDM4
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for MDM4

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

MDM4 for domains About GeneDecksing

5/6 InterPro domains/families (see all 6):

IPR001841 Znf_RING

IPR016495 p53_neg-reg_MDM_2/4

IPR003121 SWIB_MDM2_domain

IPR013083 Znf_RING/FYVE/PHD

IPR001876 Znf_RanBP2

Graphical View of Domain Structure for InterPro Entry O15151

ProtoNet protein and cluster: O15151

2 Blocks protein families:

IPB001841 Zn-finger

IPB001876 Zn-finger

UniProtKB/Swiss-Prot: MDM4_HUMAN, O15151

Domain: Region I is sufficient for binding TP53 and inhibiting its G1 arrest and apoptosis functions. It also binds

TP73. Region II contains most of a central acidic region and a putative C4-type zinc finger. The RING finger domain

which coordinates two molecules of zinc mediates the heterooligomerization with MDM2

Similarity: Belongs to the MDM2/MDM4 family

Similarity: Contains 1 RanBP2-type zinc finger

Similarity: Contains 1 RING-type zinc finger

Similarity: Contains 1 SWIB domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: MDM4_HUMAN, O15151

Function: Inhibits p53/TP53- and TP73/p73-mediated cell cycle arrest and apoptosis by binding its transcriptional

activation domain. Inhibits degradation of MDM2. Can reverse MDM2-targeted degradation of TP53 while maintaining

suppression of TP53 transactivation and apoptotic functions

Induction: Down-regulated by cisplatin (at protein level)

Genatlas biochemistry entry for MDM4:

murine p53 binding protein Mdmx homolog,also homolog to murine Mdm2,ubiquitously expressed with high levels in thymus

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	IPI	--
GO:0008270	zinc ion binding	TAS	10608892
GO:0019899	enzyme binding	IPI	19838211

MDM4 for ontologies About GeneDecksing

Phenotypes:
15/17 MGI mutant phenotypes (inferred from 8 alleles) (MGI details for Mdm4) (see all 17):

cardiovascular system	cellular	craniofacial	digestive/alimentary	embryogenesis
growth/size	hematopoietic system	immune system	integument	limbs/digits/tail
liver/biliary system	mortality/aging	nervous system	normal	pigmentation

MDM4 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-outs for MDM4: Mdm4^tm2.1Glo Mdm4^tm1Glo

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for MDM4

miRNA Products:		miRTarBase miRNAs that target MDM4: hsa-mir-34a (MIRT004403)

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		8/92 QIAGEN miScript miRNA Assays for microRNAs that regulate MDM4 (see all 92):
		hsa-miR-520e hsa-miR-607 hsa-miR-128 hsa-miR-30d hsa-miR-10b* hsa-miR-30a hsa-miR-155* hsa-miR-376c

		SwitchGear 3'UTR luciferase reporter plasmid: MDM4 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MDM4

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

p53 pathway

p53 pathway

1.00

p53 signaling pathway

p53 signaling pathway

1.00

ATM Pathway

ATM Pathway

1.00

Glioma

Signaling Pathways in Glioblastoma

0.36

Pathway sources
See GeneCards unified pathways
Show all pathways

1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for MDM4

ATM Pathway

2 BioSystems Pathways for MDM4

	Signaling Pathways in Glioblastoma
	p53 pathway

1 Kegg Pathway (Kegg details for MDM4):

p53 signaling pathway

MDM4 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for MDM4

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/58 Interacting proteins for MDM4 (O15151^{1, 2, 3} ENSP00000356150⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 58)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
MDM2	Q00987¹^,²^,³, ENSP00000417281⁴	EBI-3932059,EBI-389668 MINT-4054707 MINT-4054466 MINT-2517946 MINT-4054771 MINT-6801730 MINT-6801769 MINT-6801754 I2D: score=7 STRING: ENSP00000417281
TP53	P04637¹^,²^,³, ENSP00000269305⁴	EBI-3932059,EBI-366083 MINT-7291988 MINT-7292025 MINT-7291962 MINT-2517887 MINT-7291975 MINT-7896820 MINT-7896835 I2D: score=7 STRING: ENSP00000269305
YWHAG	P61981²^,³, ENSP00000306330⁴	MINT-1957780 MINT-1958362 MINT-1958118 MINT-1958145 MINT-1958602 MINT-1957996 MINT-1958083 I2D: score=4 STRING: ENSP00000306330
BCL2	P10415²^,³, ENSP00000329623⁴	MINT-7291988 MINT-7292000 MINT-7292013 MINT-7292025 MINT-7291975 I2D: score=1 STRING: ENSP00000329623
YWHAE	P62258²^,³, ENSP00000264335⁴	MINT-8008314 MINT-8007254 MINT-1958547 I2D: score=3 STRING: ENSP00000264335

About this table

Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IDA	9226370
GO:0006461	protein complex assembly	IDA	10608892
GO:0006915	apoptotic process	IEP	14660608
GO:0008283	cell proliferation	IEP	12101245
GO:0008284	positive regulation of cell proliferation	IEA	--

MDM4 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

MDM4 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for MDM4
1 Novoseek chemical compound relationship for MDM4 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
cisplatin	4.67	7	19838211 (2), 19578756 (1), 19521340 (1)

Search CenterWatch for drugs/clinical trials and news about MDM4

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for MDM4 gene (3 alternative transcripts):

NM_001204171.1 NM_001204172.1 NM_002393.4

Unigene Cluster for MDM4:

Mdm4 p53 binding protein homolog (mouse)

Hs.497492 [show with all ESTs]

Unigene Representative Sequence: NM_002393

13 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000470797 ENST00000367182(uc010pqw.2 uc010pqx.2 uc001hba.3 uc001hay.2 uc021phx.1 uc001hbb.3 uc009xbe.1 uc001hbc.3 uc001hbd.2)

ENST00000463049 ENST00000470908 ENST00000471783 ENST00000367180 ENST00000367179

ENST00000462012 ENST00000444261 ENST00000507825(uc010pqy.2) ENST00000454264

ENST00000367183 ENST00000391947

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		8/92 QIAGEN miScript miRNA Assays for microRNAs that regulate MDM4 (see all 92):
		hsa-miR-520e hsa-miR-607 hsa-miR-128 hsa-miR-30d hsa-miR-10b* hsa-miR-30a hsa-miR-155* hsa-miR-376c

		SwitchGear 3'UTR luciferase reporter plasmid: MDM4 3' UTR sequence

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MDM4

Additional cDNA sequence:

AK097188.1 AK223228.1 AK310607.1 AK310903.1 AY923176.1 BC025993.1 BC067299.1 BC105106.1

BC143431.1 BC143432.1 NR_024171.2

22 DOTS entries:

DT.95127601 DT.95282299 DT.110582 DT.100022563 DT.70100599 DT.100812369 DT.95241856 DT.100018620

DT.100812367 DT.121420232 DT.100653019 DT.75195445 DT.40120176 DT.121420191 DT.442853 DT.100759735

DT.100812370 DT.121420184 DT.95270499 DT.95348865 DT.110486 DT.91752055

24/235 AceView cDNA sequences (see all 235):

CA943242 AI275389 AI279044 AA765466 AI272276 AA782648 CA314392 AI168472

AI247950 AI127663 BF700112 BC067299 AA657652 CA447894 BP353227 AI147218

AA416645 BF115130 BP356616 AL599255 CR613023 BX090301 AA302856 AW196305

GeneLoc Exon Structure

5/9 Alternative Splicing Database (ASD) splice patterns (SP) for MDM4 (see all 9) About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	·	1e	^	2	^	3	^	4a	·	4b	^	5	^	6a	·	6b	^	7a	·	7b	^	8a	·	8b	^	9a	·	9b	^	10	^	11a	·	11b	^	12a	·	12b	^	13a	·	13b	·	13c	·
SP1:									-		-		-														-						-										-
SP2:									-		-		-										-				-						-										-
SP3:																							-				-		-		-		-										-
SP4:											-		-														-
SP5:																																									-		-

ExUns:	13d	·	13e	·	13f
SP1:
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for MDM4

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

MDM4 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AAATTTTCCA

About this image
See MDM4 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MDM4

SOURCE GeneReport for Unigene cluster: Hs.497492

UniProtKB/Swiss-Prot: MDM4_HUMAN, O15151

Tissue specificity: Expressed in all tissues tested with high levels in thymus

SABiosciences Expression via Pathway-Focused PCR Arrays including MDM4:

Cancer Drug Targets in human mouse rat

p53 Signaling Pathway in human mouse rat

Ubiquitin Ligases in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MDM4 Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MDM4

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MDM4

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for MDM4 gene from 4/15 species (see all 15) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	MDM4¹	Mdm4 p53 binding protein homolog (mouse)	67.87(n) 64.19(a)		419823 XM_417957.3 XP_417957.3
lizard (Anolis carolinensis)	Reptilia	-- --	--	66(a) 58(a)	1 ↔ many 1 ↔ many	6(55819466-55819903) 4(117387198-117406617)
African clawed frog (Xenopus laevis)	Amphibia	MGC52974²	similar to transformed mouse 3T3 cell double minute more	74.25(n)		BC043773.1
zebrafish (Danio rerio)	Actinopterygii	wufa09h09²	Danio rerio mRNA similar to Mdm4, transformed 3T3 cell more	73.21(n)		BC047801.1

ENSEMBL Gene Tree for MDM4 (if available)
TreeFam Gene Tree for MDM4 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for MDM4 gene

MDM2²

5 SIMAP similar genes for MDM4 using alignment to 5 protein entries: MDM4_HUMAN (see all proteins):

DKFZp781B1423 DKFZp686B01123 MDM2 isoform N1_40 HDM2 MDM2

MDM4 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for MDM4
PGOHUM00000241656

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs34242990^1,2	C	--	175648909(+)	`TGACCT/-TTTTT`	4	--	us2k¹		1		NA	2
rs74140714^1,2	C	--	175648926(+)	`NNNNTG/TTGAGT`	4	--	us2k¹		1		WA	2
rs201397194^1,2	C	--	175649878(+)	`TTTTTC/TTTTTT`	4	--	us2k¹		0	--	--	--	--
rs71568033^1,2	C	--	175649879(+)	`TTTTCT/-TTTTT`	4	--	us2k¹		1		NA	2
rs4252668^1,2	C,F,H	--	175650635(+)	`TAGGAT/CCTGTG`	4	--	ut5¹ nc-transcript-variantese³		8		NS EA NA	774
rs4252669^1,2	C	--	175650874(+)	`GAAGAG/CTTGTG`	4	--	int¹ trp³		1		NS	180
rs4245735^1,2	C,F,A,H	--	175650952(+)	`CAAACC/TTAAAG`	4	--	int¹		6		NS EA NA	598
rs4252670^1,2	C,F,H	--	175651555(+)	`ACCTTA/GAAGCT`	4	--	int¹		6		NS EA WA	714
rs4252671^1,2	C,F	--	175651990(+)	`CCTCTT/CGGTGT`	4	--	int¹		3		NS NA	178
rs4252672^1,2	C,F	--	175652031(+)	`GTCTTC/TTCTCT`	4	--	int¹ trp³		7		NS NA WA	438

HapMap Linkage Disequilibrium report for MDM4 (204485511 - 204542871 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for MDM4: --
Human Gene Mutation Database (HGMD): MDM4

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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MDM4 for disorders           About GeneDecksing

OMIM gene information: 602704    OMIM disorders: --

20/32 diseases for MDM4 (see all 32):    About MalaCards

estrogen-receptor negative breast cancer testicular germ cell tumor soft tissue sarcoma germ cell tumor

hydranencephaly oral squamous cell carcinoma mantle cell lymphoma squamous cell carcinoma

papillary thyroid carcinoma acute myeloid leukemia myeloid leukemia malignant glioma

thyroid carcinoma rheumatoid arthritis retinoblastoma vaccinia

breast cancer noma thyroiditis sarcoma

4 Novoseek disease relationships for MDM4 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
retinoblastoma	54.8	8	18045074 (2), 17251377 (1), 20080970 (1), 17080083 (1) (see all 5)
tumors	46.3	60	18335186 (4), 18172009 (3), 17251377 (3), 18826207 (3) (see all 27)
cancer	30.8	13	17499002 (2), 18335186 (2), 17128209 (1), 20226197 (1) (see all 8)
glioblastoma	12.7	3	10626796 (1), 16319692 (1)

Human Genome Epidemiology (HuGE) Navigator: MDM4 (13 documents)

Export disorders for MDM4 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for MDM4 gene, integrated from 9 sources (see all 195):
(articles sorted by number of sources associating them with MDM4)

Utopia: connect your pdf to the dynamic
world of online information

Isolation and identification of the human homolog of a new p53- binding protein, Mdmx. (PubMed id 9226370)^{1, 2, 3, 9} Shvarts A.... Jochemsen A.G. (1997)
MdmX is a substrate for the deubiquitinating enzyme U SP2a. (PubMed id 19838211)^{1, 2, 9} Allende-Vega N....Saville M.K. (2010)
ATM and Chk2-dependent phosphorylation of MDMX contribute to p53 activation after DNA damage. (PubMed id 16163388)^{1, 2, 9} Chen L....Chen J. (2005)
14-3-3gamma binds to MDMX that is phosphorylated by UV-activated Chk1, resulting in p53 activation. (PubMed id 16511572)^{1, 2, 9} Jin Y....Lu H. (2006)
The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)^{1, 2} Gregory S.G.... Bentley D.R. (2006)
Identification of an aberrantly spliced form of HDMX in human tumors: a new mechanism for HDM2 stabilization. (PubMed id 16266988)^{1, 2} Giglio S....Moretti F. (2005)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Cluster analysis of an extensive human breast cancer cell line protein expression map database. (PubMed id 11840567)^{1, 2} Harris R.A....Zvelebil M.J. (2002)
Stabilization of the MDM2 oncoprotein by interaction with the structurally related MDMX protein. (PubMed id 10608892)^{1, 2} Sharp D.A.... George D.L. (1999)
MdmX binding to ARF affects Mdm2 protein stability and p53 transactivation. (PubMed id 11297540)^{1, 9} Jackson M.W....Berberich S.J. (2001)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 4194	HGNC: 6974	AceView: MDM4	Ensembl:ENSG00000198625	euGenes: HUgn4194
ECgene: MDM4	Kegg: 4194	H-InvDB: MDM4

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for MDM4	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for MDM4	Genetics and Cytogenetics in Oncology and Haematology
NIEHS-SNPs	http://egp.gs.washington.edu/data/mdm4/

Intellectual Property for MDM4 gene
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Patent Information for MDM4 gene:
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Mdm4 p53 binding protein homolog (mouse)

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