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FLASH GENE
Symbol PRKN contributors: mct/ - updated : 26-02-2018
HGNC name parkinson protein 2, E3 ubiquitin protein ligase (parkin)
HGNC id 8607
ASSOCIATED DISORDERS
corresponding disease(s) PARK2
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral   LOH    
in breast and ovarian carcinoma
constitutional     --over  
involved in reducing aggresome formation and Lewy bodies but can be dissociated from effect on neuronal survival
tumoral        
significantly associated with adenomatous polyposis coli (APC) deficiency in colorectal cancer
tumoral     --low  
dramatically down-regulated in a variety of breast cancer cell lines as well as in primary breast cancer tissues
constitutional     --other  
increased turnover of parkin may contribute to the pathogenesis of Machado-Joseph diseas and help explain some of its parkinsonian features (
constitutional     --low  
in chronic obstructive pulmonary disease (COPD) lung, suggesting that insufficient mitophagy is a part of the pathogenic sequence of COPD
tumoral     --low  
crucial involvement of parkin deficiency in the pathogenesis of pancreatic cancer
tumoral     --low  
associated with high-grade clear-cell renal cell carcinomas (ccRCCs) and lymph node metastasis
Susceptibility
  • to leprosy
  • to late-onset form of Parkinson disease
  • to type 2 diabetes patients with nephropathy
  • to familial lung cancer
  • Variant & Polymorphism SNP
  • increasing the susceptibility to leprosy
  • maybe due to heterozygous mutations especially in exon 7, and influenced by environmental and intrinsic factors V
  • in late-onset form of Parkinson disease
  • SNP increasing the risk of type 2 diabetes patients with nephropathy
  • c.823C>T (p.Arg275Trp) associated to familial lung cancer
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Park2 heterozygous knockout mice with ApcMin mice resulted in a dramatic acceleration of intestinal adenoma development and increased polyp multiplicity