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References OMIM Gene GeneReviews HGMD HGNC
last update : 5/09/2006
Symbol RCC3
Location 8q24.13
Name hereditary renal cell carcinoma
Corresponding gene RNF139
Main clinical features
  • predisposition to renal cancer and non-medullary thyroid cancer in carriers of a balanced t(3;8)(p14.2;q24.1)
  • Genetic determination chromosomal
    Prevalence one family
    Related entries RCC1, VHL, CRCC
    Function/system disorder kidney and urinary tract
    Type malignancy
    Gene product
    Name E3-ubiquitin ligase, interacting with VHL in a common pathway
    Gene mutationChromosome rearrangementEffectComments
      translocation   translocation t(3;8)(p14.2;q24.1) in one family, disrupting TRC8(RNF139)
    Remark(s) the involvement of the FHIT gene and the fragile site FRA3B at 3p14.2 in the genetics of RCC was not confirmed