About: MDM2 wt Allele     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • MDM2 wt Allele
equivalentClass
OMIM_Number
  • 164785
Homologous_Gene
  • MDM2/MDM4 Family
GenBank_Accession_Number
  • NM_002392
Semantic_Type
  • Gene or Genome
Preferred_Name
  • MDM2 wt Allele
UMLS_CUI
  • C1708817
GO_Annotation
  • negative regulation of cell proliferationGO:0008285TAS29-SEP-2003CGAP
EntrezGene_ID
  • 4193
Legacy_Concept_Name
  • MDM2_wt_Allele
HGNC_ID
  • HGNC:6973
FULL_SYN
  • p53-Binding Protein GeneSYNCI
  • MDM2, Transformed 3T3 Cell Double Minute 2, p53 Binding Protein (Mouse) wt AlleleSYNCI
  • MDM2 wt AllelePTNCI
  • MDM 2SYNCI
Gene_Encodes_Product
  • MDM2 Protein
DEFINITION
  • Human MDM2 wild-type allele is located within 12q14.3-q15 and is approximately 32 kb in length. This allele, which encodes ubiquitin-protein ligase E3 Mdm2 protein, plays a role in the regulation of transactivation by tumor protein p53, as part of an autoregulatory negative feedback loop. Overexpression of MDM2 can result in excessive inactivation of tumor protein p53 and diminish its tumor suppressor capability.NCI
DesignNote
  • Flanked by microsatellites D12S80 and D12S83, human MDM2 Gene (MDM2/MDM4 family) at 12q14.3-q15 encodes a 90 kD ubiquitin ligase E3 phosphoprotein that complexes with p53 in S/G2/M, targeting its degradation and inhibiting p53-mediated gene transactivation. The 25 kb murine gene contains at least twelve exons and MDM2 expression is regulated by the RAS/MAPK pathway. Upon DNA damage, phosphorylation of p53 suppresses interaction with MDM2 and p14(ARF) inhibits MDM2 activity. Interaction with MDM2 inhibits RB protein. MDM2 amplification is found in some cancers and may lead to escape from p53-regulation of growth control.
code
  • C51283
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