Gene Gene information from NCBI Gene database.
Entrez ID 4194
Gene name MDM4 regulator of p53
Gene symbol MDM4
Synonyms (NCBI Gene)
BMFS6HDMXMDMXMRP1
Chromosome 1
Chromosome location 1q32.1
Summary 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 inhib
miRNA miRNA information provided by mirtarbase database.
1845
miRTarBase ID miRNA Experiments Reference
MIRT004403 hsa-miR-34a-5p ReviewMicroarray 19461653
MIRT006570 hsa-miR-191-5p Luciferase reporter assay 21084273
MIRT021357 hsa-miR-9-5p Microarray 17612493
MIRT024671 hsa-miR-215-5p Microarray 19074876
MIRT026375 hsa-miR-192-5p Microarray 19074876
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
TP53 Unknown 20036872;20372076
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
31
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 9226370
GO:0003170 Process Heart valve development ISS
GO:0003181 Process Atrioventricular valve morphogenesis ISS
GO:0003203 Process Endocardial cushion morphogenesis ISS
GO:0003281 Process Ventricular septum development ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602704 6974 ENSG00000198625
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O15151
Protein name Protein Mdm4 (Double minute 4 protein) (Mdm2-like p53-binding protein) (Protein Mdmx) (p53-binding protein Mdm4)
Protein function Along with MDM2, contributes to TP53 regulation (PubMed:32300648). 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
PDB 2CR8 , 2MWY , 2N06 , 2N0U , 2N0W , 2N14 , 2VJE , 2VJF , 2VYR , 3DAB , 3EQY , 3FDO , 3FE7 , 3FEA , 3JZO , 3JZP , 3JZQ , 3LBJ , 3MQR , 3U15 , 4RXZ , 5MNJ , 5UML , 5VK1 , 6Q9Q , 6Q9S , 6Q9U , 6Q9W , 6Q9Y , 6YR5 , 6YR7 , 7C3Q , 7C3Y , 7C44 , 7EL4 , 7KJN , 7MLA , 8HDG , 8IA5
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02201 SWIB 25 95 SWIB/MDM2 domain Domain
PF00641 zf-RanBP 300 329 Zn-finger in Ran binding protein and others Domain
PF13920 zf-C3HC4_3 434 484 Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in all tissues tested with high levels in thymus.
Sequence
MTSFSTSAQCSTSDSACRISPGQINQVRPKLPLLKILHAAGAQGEMFTVKEVMHYLGQYI
MVKQLYDQQEQHMVYCGGDLLGELLGRQSFSVKDP
SPLYDMLRKNLVTLATATTDAAQTL
ALAQDHSMDIPSQDQLKQSAEESSTSRKRTTEDDIPTLPTSEHKCIHSREDEDLIENLAQ
DETSRLDLGFEEWDVAGLPWWFLGNLRSNYTPRSNGSTDLQTNQDVGTAIVSDTTDDLWF
LNESVSEQLGVGIKVEAADTEQTSEEVGKVSDKKVIEVGKNDDLEDSKSLSDDTDVEVTS
EDEWQCTECKKFNSPSKRYCFRCWALRKD
WYSDCSKLTHSLSTSDITAIPEKENEGNDVP
DCRRTISAPVVRPKDAYIKKENSKLFDPCNSVEFLDLAHSSESQETISSMGEQLDNLSEQ
RTDTENMEDCQNLLKPCSLCEKRPRDGNIIHGRTGHLVTCFHCARRLKKAGASCPICKKE
IQLV
IKVFIA
Sequence length 490
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  p53 signaling pathway
MicroRNAs in cancer
  Oxidative Stress Induced Senescence
Oncogene Induced Senescence
Ub-specific processing proteases
Regulation of TP53 Activity through Phosphorylation
Regulation of TP53 Degradation
Regulation of TP53 Activity through Methylation
Stabilization of p53
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
21
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BENIGN NEOPLASM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bone marrow failure syndrome 6 Uncertain significance ClinVar
ClinGen, ClinVar, Disgenet, HPO
ClinGen, ClinVar, Disgenet, HPO
ClinGen, ClinVar, Disgenet, HPO
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute leukemia Leukemia BEFREE 18711657, 19065772, 22037714
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 11323101, 19065772, 22037714, 24145140, 30535484
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 10214864, 10419897, 11986944, 19288261, 25405759
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 31032633
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 15070089, 15856298, 23378758, 30132569
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of colon Adenocarcinoma Of Colon BEFREE 12115804
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer BEFREE 15070089, 30941955
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 27462918
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Endometrioid Endometrial Cancer BEFREE 11505398
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 11774239
★☆☆☆☆
Found in Text Mining only