Seroatlas · Human Serome Atlas

MDM2

E3 ubiquitin-protein ligase Mdm2

Also known as: HDM2, MDM2_HUMAN, MGC5370

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q00987
Gene
MDM2
Ensembl
ENSG00000135679
Chromosome
12
Canonical length
491 aa
Protein class
Cancer-related genes, Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Centriolar satellite,Cytosol,Mid piece,Principal piece,End piece

OverviewNCBI Gene

This gene encodes a nuclear-localized E3 ubiquitin ligase. The encoded protein can promote tumor formation by targeting tumor suppressor proteins, such as p53, for proteasomal degradation. This gene is itself transcriptionally-regulated by p53. Overexpression or amplification of this locus is detected in a variety of different cancers. There is a pseudogene for this gene on chromosome 2. Alternative splicing results in a multitude of transcript variants, many of which may be expressed only in tumor cells. [provided by RefSeq, Jun 2013]

Canonical amino-acid sequenceUniProt

491 residues, UniProt reviewed canonical sequence.

>Q00987|MDM2
     1  MCNTNMSVPT DGAVTTSQIP ASEQETLVRP KPLLLKLLKS VGAQKDTYTM KEVLFYLGQY
    61  IMTKRLYDEK QQHIVYCSND LLGDLFGVPS FSVKEHRKIY TMIYRNLVVV NQQESSDSGT
   121  SVSENRCHLE GGSDQKDLVQ ELQEEKPSSS HLVSRPSTSS RRRAISETEE NSDELSGERQ
   181  RKRHKSDSIS LSFDESLALC VIREICCERS SSSESTGTPS NPDLDAGVSE HSGDWLDQDS
   241  VSDQFSVEFE VESLDSEDYS LSEEGQELSD EDDEVYQVTV YQAGESDTDS FEEDPEISLA
   301  DYWKCTSCNE MNPPLPSHCN RCWALRENWL PEDKGKDKGE ISEKAKLENS TQAEEGFDVP
   361  DCKKTIVNDS RESCVEENDD KITQASQSQE SEDYSQPSTS SSIIYSSQED VKEFEREETQ
   421  DKEESVESSL PLNAIEPCVI CQGRPKNGCI VHGKTGHLMA CFTCAKKLKK RNKPCPVCRQ
   481  PIQMIVLTYF P

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MDM2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.55
Highest tissue expression
30 nTPM

Expression across tissuesHPA

Tissue

  • bone marrow: 30 nTPM
  • liver: 29 nTPM
  • rectum: 23 nTPM
  • colon: 21 nTPM
  • skeletal muscle: 18 nTPM
  • placenta: 17 nTPM

Single-cell type

  • thymic myoid cells: 1,043 nCPM
  • urothelial cells: 761 nCPM
  • endometrial ciliated cells: 662 nCPM
  • neutrophils: 372 nCPM
  • prostatic hillock cells: 352 nCPM
  • syncytiotrophoblasts: 291 nCPM

Immune cell

  • neutrophil: 21 nTPM
  • non-classical monocyte: 8.5 nTPM
  • classical monocyte: 8.1 nTPM
  • basophil: 7.5 nTPM
  • intermediate monocyte: 6.7 nTPM
  • T-reg: 5.7 nTPM

Brain region

  • choroid plexus: 89 nTPM
  • white matter: 53 nTPM
  • medulla oblongata: 50 nTPM
  • pons: 48 nTPM
  • basal ganglia: 48 nTPM
  • thalamus: 47 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MDM2.

Disease | AllUniProt

Conditions MDM2 is implicated in, by any mechanism.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 205 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Lessel-kubisch syndrome
  • Accelerated tumor formation, susceptibility to

Disease | ImmuneIEDB

Conditions an epitope on MDM2 was assayed in.

ReferencesPubMed · IEDB

Publications for MDM2 from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Reference: AutoantibodyPubMed

7 publications

Show 2 more

Reference: T cellIEDB

6 publications

Show 1 more

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. IEDB — curated epitope assays from the Immune Epitope Database (Vita et al., Nucleic Acids Research 2019). Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.16
gnomAD pLI
1
gnomAD missense Z
2.33
DepMap mean gene effect
-0.58
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 9% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of MDM2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads MDM2 as an antibody target. Whether an autoantibody or antibody against MDM2 could matter depends on whether native MDM2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MDM2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label MDM2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/MDM2. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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