MDM2 MDM2 proto-oncogene
Gene ID: 4193, updated on 7-Apr-2024Gene type: protein coding
Also known as: HDMX; LSKB; hdm2; ACTFS
- See all available tests in GTR for this gene
- Go to complete Gene record for MDM2
- Go to Variation Viewer for MDM2 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study identifies susceptibility loci of silica related pneumoconiosis in Han Chinese. GeneReviews: Not available | |
| Accelerated tumor formation, susceptibility to | See labs |
| Lessel-kubisch syndrome | See labs |
Genomic context
- Location:
- 12q15
- Sequence:
- Chromosome: 12; NC_000012.12 (68808172..68850686)
- Total number of exons:
- 12
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MDM2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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