Mdm2 Gene Detail

Summary

• Symbol
  Mdm2
• Name
  transformed mouse 3T3 cell double minute 2
• Synonyms
  1700007J15Rik, Mdm-2

• Feature Type
  protein coding gene
• IDs
  MGI:96952
  NCBI Gene: 17246
• Alliance
  gene page
• Transcription Start Sites
  21 TSS
• Candidate for QTL
  2 QTL

Location &
Maps

• Sequence Map
  Chr10:117524780-117546663 bp, - strand

  From NCBI annotation of GRCm39
  

• View this region in JBrowse
  

• Genome Browsers
  Ensembl | UCSC | NCBI

• Genetic Map
  Chromosome 10, 66.32 cM, cytoband C1-C3
• Mapping Data
  9 experiments

Strain
Comparison

• SNPs within 2kb
  495 from dbSNP Build 142
• Strain Annotations
  18
• RFLP
  1

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_96952	protein coding gene	Chr10:117524780-117546663 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0017761	protein coding gene	Chr10:120636918-120662030 (-)
A/J	MGP_AJ_G0017737	protein coding gene	Chr10:115909004-115931632 (-)
AKR/J	MGP_AKRJ_G0017699	protein coding gene	Chr10:119314449-119337350 (-)
BALB/cJ	MGP_BALBcJ_G0017700	protein coding gene	Chr10:116306890-116332248 (-)
C3H/HeJ	MGP_C3HHeJ_G0017525	protein coding gene	Chr10:119535199-119557492 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0018155	protein coding gene	Chr10:124786893-124808453 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0015836	protein coding gene	Chr10:110481727-110503005 (-)
CAST/EiJ	MGP_CASTEiJ_G0017085	protein coding gene	Chr10:119841316-119865319 (-)
CBA/J	MGP_CBAJ_G0017494	protein coding gene	Chr10:129723249-129749292 (-)
DBA/2J	MGP_DBA2J_G0017599	protein coding gene	Chr10:115057637-115080692 (-)
FVB/NJ	MGP_FVBNJ_G0017594	protein coding gene	Chr10:114022510-114045586 (-)
LP/J	MGP_LPJ_G0017672	protein coding gene	Chr10:121181891-121207093 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0017623	protein coding gene	Chr10:132534248-132560281 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0018195	protein coding gene	Chr10:119382259-119403777 (-)
PWK/PhJ	MGP_PWKPhJ_G0016869	protein coding gene	Chr10:115154437-115178073 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0016659	protein coding gene	Chr10:118160014-118186787 (-)
WSB/EiJ	MGP_WSBEiJ_G0017147	protein coding gene	Chr10:119569983-119591545 (-)

Homology

• Human Ortholog
  MDM2, MDM2 proto-oncogene

• Vertebrate Orthologs
  3

Vertebrate Orthology Source

Alliance of Genome Resources

• Human Ortholog
  MDM2, MDM2 proto-oncogene
  
• Synonyms
  ACTFS, hdm2, HDMX, LSKB
• Links
  HGNC:6973

  NCBI Gene ID: 4193

  neXtProt AC: NX_Q00987

  UniProt: Q00987

  
  
• Chr Location
  12q15; chr12:68808172-68850686 (+)  GRCh38

---

• MGI Vertebrate Homology
  Mdm2 stringent orthology
  1 human;1 mouse;1 rat;1 zebrafish
  
• HCOP
  vertebrate homology predictions: MDM2
• Protein SuperFamily
  p53_MDM_2/4
• Gene Tree
  Mdm2
  

Human Diseases

• Diseases
  5 with human MDM2 associations

				Human Disease	Mouse Models
				chronic myeloid leukemia IDs chronic myeloid leukemia       DOID:8552 DOID:8551 DOID:8606 EFO:0000339 ICD9CM:205.1 KEGG:05220 OMIM:608232 ORDO:521 UMLS_CUI:C0023473
				glioblastoma IDs glioblastoma       DOID:3068 DOID:3075 DOID:3080 MESH:D005909 NCI:C129295 NCI:C39750 NCI:C9094 UMLS_CUI:C0017636 UMLS_CUI:C0278878 UMLS_CUI:C1514422
				hepatocellular carcinoma IDs hepatocellular carcinoma       DOID:684 DOID:5005 EFO:0000182 ICD10CM:C22.0 MESH:D006528 NCI:C3099 OMIM:114550 ORDO:88673 UMLS_CUI:C2239176
				pancreatic ductal carcinoma IDs pancreatic ductal carcinoma       DOID:3587 DOID:10023 ICD10CM:C25.3 ICD9CM:157.3 MESH:D021441 UMLS_CUI:C0153461 UMLS_CUI:C0887833
				sarcoma IDs sarcoma       DOID:1115 DOID:3936 ICD10CM:C49 ICD9CM:171 ICD9CM:171.9 UMLS_CUI:C0153519

Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes

• Phenotype Summary
  68 phenotypes from 15 alleles in 11 genetic backgrounds
  77 phenotypes from multigenic genotypes
  163 phenotype references
  

• All Mutations and Alleles
  83
• Chemically induced (other)
  1
• Endonuclease-mediated
  5
• Gene trapped
  45
• Targeted
  27
• Transgenic
  5
• Genomic Mutations
  1 involving Mdm2
• Incidental Mutations
  Mutagenetix , APF , CvDC
• Find Mice (IMSR)
  54 strains or lines available
• Comparison Matrix
  Gene Expression + Phenotype

Mice homozygous for a gene trapped allele exhibit embryonic lethality. Mice homozygous for a null allele exhibit prenatal lethality. Mice homozygous for one knock-in allele exhibit embryonic lethality while mice homozygous for a different knock-in allele exhibit altered cell cycle regulation.

Gene Ontology
(GO)
Classifications

• All GO Annotations
  173
• GO References
  43

Expression

• Assay Results
  1030
• Tissues
  172
• cDNA Data
  26
• Literature Summary
  65

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

• Other Mouse Links
  Allen Institute
  GEO
  Expression Atlas
• Other Vertebrate Links
  Xenbase mdm2
  ZFIN mdm2

Sequences &
Gene Models

• All Sequences
  85
• RefSeq
  21
• UniProt
  5
• CCDS
  CCDS24194.1, CCDS70110.1

• Ensembl
  ENSMUSG00000020184 (Evidence)
• NCBI Gene
  17246

Representative Sequences			Length	Strain/Species
genomic	17246	NCBI Gene Model | MGI Sequence Detail	21884	C57BL/6J
transcript	NM_001428611	RefSeq | MGI Sequence Detail	3060	C57BL/6
polypeptide	P23804	UniProt | EBI | MGI Sequence Detail	489	Not Applicable

Protein
Information

• UniProt
  5 Sequences
• Protein Ontology
  PR:000010267 E3 ubiquitin-protein ligase Mdm2
  (term hierarchy)
• EC
  2.3.2.27
• InterPro Domains
  IPR028340 E3 ubiquitin-protein ligase Mdm2
  IPR044080 MDM2, modified RING finger, HC subclass
  IPR016495 p53 negative regulator Mdm2/Mdm4
  IPR003121 SWIB/MDM2 domain
  IPR036885 SWIB/MDM2 domain superfamily
  IPR001876 Zinc finger, RanBP2-type
  IPR036443 Zinc finger, RanBP2-type superfamily
  IPR013083 Zinc finger, RING/FYVE/PHD-type
  IPR001841 Zinc finger, RING-type

Molecular
Reagents

• All nucleic 60

  Genomic 17

  cDNA 29

  Primer pair 10

  Other 4

  
  

  Microarray probesets 4

Other
Accession IDs

MGD-MRK-12169, MGD-MRK-12172, MGI:1916580, MGI:2143477

References

• Summaries
  All 412

  Developmental Gene Expression 65

  Gene Ontology 43

  Phenotypes 163
• Earliest
  J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
• Latest
  J:347602 Shi Y, et al., Diphthamide deficiency promotes association of eEF2 with p53 to induce p21 expression and neural crest defects. Nat Commun. 2024 Apr 26;15(1):3301

TSS for Mdm2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr99469	Chr10:117546650-117546678 (-)	-1 bp
Tssr99468	Chr10:117546579-117546641 (-)	53 bp
Tssr99467	Chr10:117546549-117546566 (-)	105 bp
Tssr99466	Chr10:117546133-117546208 (-)	492 bp
Tssr99465	Chr10:117546098-117546110 (-)	559 bp
Tssr99464	Chr10:117546008-117546033 (-)	642 bp
Tssr99463	Chr10:117545993-117546004 (-)	664 bp
Tssr99462	Chr10:117545978-117545992 (-)	678 bp
Tssr99461	Chr10:117545920-117545937 (-)	734 bp
Tssr99460	Chr10:117537521-117537530 (-)	9,137 bp
Tssr99459	Chr10:117534940-117534946 (-)	11,720 bp
Tssr99458	Chr10:117531322-117531350 (-)	15,327 bp
Tssr99457	Chr10:117529179-117529186 (-)	17,480 bp
Tssr99456	Chr10:117529063-117529082 (-)	17,590 bp
Tssr99455	Chr10:117529040-117529049 (-)	17,618 bp
Tssr99454	Chr10:117526440-117526460 (-)	20,213 bp
Tssr99453	Chr10:117526404-117526422 (-)	20,250 bp
Tssr99452	Chr10:117526332-117526344 (-)	20,325 bp
Tssr99451	Chr10:117526126-117526137 (-)	20,531 bp
Tssr99450	Chr10:117525786-117525806 (-)	20,867 bp
Tssr99449	Chr10:117525770-117525785 (-)	20,885 bp

Mdm2 is Candidate Gene for:

QTL	Genetic Location*	Genome Location (GRCm39)	Reference	QTL Note
Igfbp3q2	Chr10, syntenic		J:91835	The correlation between gene expression and dietary interaction was examined in a population of (BALB/cStCrlfC3H/Nctr x VY/WffC3Hf/Nctr-A(vy)/a)F1 animals. A/a and A/A animals were placed on a 70% (calorie restricted) or 100% (non-restricted) diet andliver mRNA levels were assessed for over 18,000 genes using DNA microarrays. Twenty-eight known genes showing statistically significant differential expression between the 70% and 100% calorie diets and A/a and A/A genotypes mapped near known diabesity QTLs. These genes may be considered further for candidate genes. On mouse Chromosome 10, candidate genes for diabesity QTL Igfp3q2 (46 cM) are Aes (43 cM) and Hsp90b1 (49 cM). Aes shows differential expression between A/a and A/A animals on both the restricted and unrestricted diets while Hsp90b1 shows differential expression between the restricted and unrestricted diets on the A/A background. At another locus, Mdm2 (66 cM) is a candidate gene for diabesity QTL Insq4 (59 cM). Mdm2 shows differential expression between the restricted and unrestricted diets on the A/a background.
Insq4	Chr10, 54.72 cM	Chr10:103909085-103909229	J:91835	The correlation between gene expression and dietary interaction was examined in a population of (BALB/cStCrlfC3H/Nctr x VY/WffC3Hf/Nctr-A(vy)/a)F1 animals. A/a and A/A animals were placed on a 70% (calorie restricted) or 100% (non-restricted) diet andliver mRNA levels were assessed for over 18,000 genes using DNA microarrays. Twenty-eight known genes showing statistically significant differential expression between the 70% and 100% calorie diets and A/a and A/A genotypes mapped near known diabesity QTLs. These genes may be considered further for candidate genes. On mouse Chromosome 10, candidate genes for diabesity QTL Igfp3q2 (46 cM) are Aes (43 cM) and Hsp90b1 (49 cM). Aes shows differential expression between A/a and A/A animals on both the restricted and unrestricted diets while Hsp90b1 shows differential expression between the restricted and unrestricted diets on the A/A background. At another locus, Mdm2 (66 cM) is a candidate gene for diabesity QTL Insq4 (59 cM). Mdm2 shows differential expression between the restricted and unrestricted diets on the A/a background.

*cM position of peak correlated region/marker