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mutLBSgeneDB |
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| Gene summary for MDM4 |
 Gene summary |
| Basic gene Info. | Gene symbol | MDM4 |
| Gene name | MDM4, p53 regulator | |
| Synonyms | HDMX|MDMX|MRP1 | |
| Cytomap | UCSC genome browser: 1q32 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001204171.1, NM_001204172.1,NM_001278516.1,NM_001278517.1,NM_001278518.1, NM_001278519.1,NM_002393.4, | |
| Description | MDM4 protein variant GMDM4 protein variant YMDM4-related protein 1Mdm4 p53 binding protein homologdouble minute 4, human homolog of; p53-binding proteinmdm2-like p53-binding proteinprotein Mdm4protein Mdmx | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 602704 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000198625 | ||
| HPRD : 04082 | ||
| Vega : OTTHUMG00000035877 | ||
| Protein | UniProt: O15151 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_MDM4 | |
| BioGPS: 4194 | ||
| Pathway | NCI Pathway Interaction Database: MDM4 | |
| KEGG: MDM4 | ||
| REACTOME: MDM4 | ||
| Pathway Commons: MDM4 | ||
| Context | iHOP: MDM4 | |
| ligand binding site mutation search in PubMed: MDM4 | ||
| UCL Cancer Institute: MDM4 | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0000122 | negative regulation of transcription from RNA polymerase II promoter | 9226370 | GO:0006461 | protein complex assembly | 10608892 |
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| Ligand binding site mutations for MDM4 |
| Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.)  : non-synonymous mutation on LBS, Circle size denotes number of samples. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | M46 | M46I | COAD | 1 | D100 | D100N | SKCM | 1 | V74 | V74I | UCEC | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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| Protein structure related information for MDM4 |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | V74 | V74I | -1.550283 | M46 | M46I | -1.0483304 | D100 | D100N | -0.90880753 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for MDM4 from PDB |
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| Differential gene expression and gene-gene network for MDM4 |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for MDM4 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0017636 | Glioblastoma | 9 | Biomarker |
| umls:C1458155 | Breast Neoplasms | 4 | AlteredExpression, Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for MDM4 |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of MDM4 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | WW8 | N-[(3S)-1-({6-CHLORO-3-[1-(4-CHLOROBENZYL)-4-PHENYL-1H-IMIDAZOL-5-YL]-1H-INDOL-2-YL}CARBONYL)PYRROLIDIN-3-YL]-N,N',N'-TRIMETHYLPROPANE-1,3-DIAMINE | 3lbj | E | D100 | MG | MAGNESIUM(2+) | 3fdo | A | M46 | III | Peptide ligand (THR,PHE,SER,ASP,LEU,TRP,LYS,LEU,LEU,PRO,GLU) | 3dab | G | V74 | III | Peptide ligand (LEU,THR,PHE,GLU,HIS,TYR,TRP,ALA,GLN,LEU,THR,SER) | 3jzo | A | V74 | III | Peptide ligand (LEU,THR,PHE,GLU,HIS,TRP,TRP,ALA,GLN,LEU,THR,SER) | 3jzp | A | V74 |
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| Conservation information for LBS of MDM4 |
| Multiple alignments for O15151 in multiple species |
| LBS | AA sequence | # species | Species | C306 | EDEWQCTECKK | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | C306 | QDAWQCSECRK | 1 | Danio rerio | C309 | WQCTECKKFNS | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | C309 | WQCSECRKFNT | 1 | Danio rerio | C320 | PSKRYCFRCWA | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | C320 | PLQRYCMRCWA | 1 | Danio rerio | C323 | RYCFRCWALRK | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | C323 | RYCMRCWALRK | 1 | Danio rerio | C437 | NLLKPCSLCEK | 2 | Homo sapiens, Bos taurus | C437 | NVLKPCSLCEK | 2 | Mus musculus, Rattus norvegicus | C437 | ALLEPCKLCRV | 1 | Danio rerio | C440 | KPCSLCEKRPR | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | C440 | EPCKLCRVRPR | 1 | Danio rerio | C460 | GHLVTCFHCAR | 2 | Homo sapiens, Bos taurus | C460 | SHLTTCFHCAR | 2 | Mus musculus, Rattus norvegicus | C460 | AHLITCFPCAR | 1 | Danio rerio | C463 | VTCFHCARRLK | 2 | Homo sapiens, Bos taurus | C463 | TTCFHCARRLK | 2 | Mus musculus, Rattus norvegicus | C463 | ITCFPCARKLH | 1 | Danio rerio | C474 | KAGASCPICKK | 2 | Homo sapiens, Bos taurus | C474 | KSGASCPACKK | 2 | Mus musculus, Rattus norvegicus | C474 | KFHAPCPGCGQ | 1 | Danio rerio | C477 | ASCPICKKEIQ | 2 | Homo sapiens, Bos taurus | C477 | ASCPACKKEIQ | 2 | Mus musculus, Rattus norvegicus | C477 | APCPGCGQVIQ | 1 | Danio rerio | D100 | PSPLYDMLRKN | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | D100 | PSPVYEMLKRN | 1 | Danio rerio | E45 | AGAQGEMFTVK | 2 | Homo sapiens, Bos taurus | E45 | AGAQGEVFTMK | 2 | Mus musculus, Rattus norvegicus | E45 | AGAQEEVFTLK | 1 | Danio rerio | E70 | LYDQQEQHMVY | 3 | Homo sapiens, Mus musculus, Bos taurus | E70 | LYDKQRQHIVH | 1 | Danio rerio | E70 | LYDQQEQHLVY | 1 | Rattus norvegicus | F90 | LGRQSFSVKDP | 2 | Homo sapiens, Bos taurus | F90 | LGCQSFSVKDP | 2 | Mus musculus, Rattus norvegicus | F90 | LEVGSFSVKNP | 1 | Danio rerio | G57 | VMHYLGQYIMV | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | G57 | VMHYLGQYIMM | 1 | Danio rerio | H451 | DGNIIHGKTSH | 2 | Mus musculus, Rattus norvegicus | H451 | DGNIIHGRTGH | 1 | Homo sapiens | H451 | NGNIIHGRTAH | 1 | Danio rerio | H451 | NGNIIHGRTGH | 1 | Bos taurus | H456 | HGRTGHLVTCF | 2 | Homo sapiens, Bos taurus | H456 | HGKTSHLTTCF | 2 | Mus musculus, Rattus norvegicus | H456 | HGRTAHLITCF | 1 | Danio rerio | H54 | VKEVMHYLGQY | 2 | Homo sapiens, Bos taurus | H54 | MKEVMHYLGQY | 2 | Mus musculus, Rattus norvegicus | H54 | LKEVMHYLGQY | 1 | Danio rerio | H72 | DQQEQHMVYCG | 3 | Homo sapiens, Mus musculus, Bos taurus | H72 | DKQRQHIVHCH | 1 | Danio rerio | H72 | DQQEQHLVYCG | 1 | Rattus norvegicus | I60 | YLGQYIMVKQL | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | I60 | YLGQYIMMKQL | 1 | Danio rerio | K50 | EMFTVKEVMHY | 2 | Homo sapiens, Bos taurus | K50 | EVFTMKEVMHY | 2 | Mus musculus, Rattus norvegicus | K50 | EVFTLKEVMHY | 1 | Danio rerio | K93 | QSFSVKDPSPL | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | K93 | GSFSVKNPSPV | 1 | Danio rerio | L56 | EVMHYLGQYIM | 5 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus, Bos taurus | L98 | KDPSPLYDMLR | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | L98 | KNPSPVYEMLK | 1 | Danio rerio | M46 | GAQGEMFTVKE | 2 | Homo sapiens, Bos taurus | M46 | GAQGEVFTMKE | 2 | Mus musculus, Rattus norvegicus | M46 | GAQEEVFTLKE | 1 | Danio rerio | M53 | TVKEVMHYLGQ | 2 | Homo sapiens, Bos taurus | M53 | TMKEVMHYLGQ | 2 | Mus musculus, Rattus norvegicus | M53 | TLKEVMHYLGQ | 1 | Danio rerio | M61 | LGQYIMVKQLY | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | M61 | LGQYIMMKQLY | 1 | Danio rerio | P95 | FSVKDPSPLYD | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | P95 | FSVKNPSPVYE | 1 | Danio rerio | Q43 | HAAGAQGEMFT | 1 | Homo sapiens | Q43 | KVAGAQEEVFT | 1 | Danio rerio | Q43 | HAAGAQGEVFT | 1 | Mus musculus | Q43 | QAAGAQGEVFT | 1 | Rattus norvegicus | Q43 | QAAGAQGEMFT | 1 | Bos taurus | Q69 | QLYDQQEQHMV | 3 | Homo sapiens, Mus musculus, Bos taurus | Q69 | QLYDKQRQHIV | 1 | Danio rerio | Q69 | QLYDQQEQHLV | 1 | Rattus norvegicus | Q71 | YDQQEQHMVYC | 3 | Homo sapiens, Mus musculus, Bos taurus | Q71 | YDKQRQHIVHC | 1 | Danio rerio | Q71 | YDQQEQHLVYC | 1 | Rattus norvegicus | R103 | LYDMLRKNLVT | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | R103 | VYEMLKRNLVI | 1 | Danio rerio | V27 | QIN-QVRPKLP | 1 | Homo sapiens | V27 | EGT-QVHPRAP | 1 | Danio rerio | V27 | QIS-QVRPKLQ | 1 | Mus musculus | V27 | QINQQVRPKLQ | 1 | Rattus norvegicus | V27 | QTN-QVRPKLP | 1 | Bos taurus | V49 | GEMFTVKEVMH | 2 | Homo sapiens, Bos taurus | V49 | GEVFTMKEVMH | 2 | Mus musculus, Rattus norvegicus | V49 | EEVFTLKEVMH | 1 | Danio rerio | V74 | QEQHMVYCGGD | 3 | Homo sapiens, Mus musculus, Bos taurus | V74 | QRQHIVHCHDD | 1 | Danio rerio | V74 | QEQHLVYCGGD | 1 | Rattus norvegicus | V92 | RQSFSVKDPSP | 2 | Homo sapiens, Bos taurus | V92 | CQSFSVKDPSP | 2 | Mus musculus, Rattus norvegicus | V92 | VGSFSVKNPSP | 1 | Danio rerio | Y55 | KEVMHYLGQYI | 5 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus, Bos taurus | Y66 | MVKQLYDQQEQ | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | Y66 | MMKQLYDKQRQ | 1 | Danio rerio | Y99 | DPSPLYDMLRK | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | Y99 | NPSPVYEMLKR | 1 | Danio rerio |
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