PARK2

Symbol: PARK2
Name: parkinson protein 2, E3 ubiquitin protein ligase (parkin)
Entrez gene ID: 5071
Ensembl gene ID: ENSG00000185345
Species: Human (Taxid: 9606)

Functional description:
possibly playing a role in role in regulation of neuron death. Limits the production of reactive oxygen species (ROS). Loss of this ubiquitin ligase activity appears to be the mechanism underlying pathogenesis of PARK2. May protect neurons against alpha synuclein toxicity, proteasomal dysfunction, GPR37 accumulation, and kainate-induced excitotoxicity. May play a role in controlling neurotransmitter trafficking at the presynaptic terminal and in calcium-dependent exocytosis. Regulates cyclin-E during neuronal apoptosis. May represent a tumor suppressor gene. [UniProt]

Observation:

Parkin loss of function (e.g. due to deletion or point mutations) results in autosomal recessive juvenile parkinsonism, a form of Parkinson's disease with age of onset below 40 years. Associated phenotypes include resting tremor, rigidity, bradykinesia and postural instability is associated with selective neurodegeneration of the pigmented neurons in the brain stem (substiantia nigria and locus coereus) as well as the presence of intracytoplasmic inclusion bodies (Lewy bodies) [4735177].PARK2 was found to be associated with longevity [22279548].



Assays: Organismal Lifespan

Longevity Associated Variants:
  • rs3019435 0.001006354 [22279548]

  • Classification:
  • Aging Associated
  • Longevity-Associated


  • References:
  • 4735177: Paralysis agitans of early onset with marked diurnal fluctuation of symptoms.


  • Aging Relevance Analysis/Source:
  • GenAge
  • GenDR

  • Homologs
  • PARK2 (9606)
  • PARK2 (9598)
  • PARK2 (9615)
  • PARK2 (9913)
  • Park2 (10090)
  • Park2 (10116)
  • PARK2 (9031)
  • park2 (7955)
  • park (7227)
  • AgaP_AGAP006580 (7165)
  • pdr-1 (6239)

  • Inparanoids
  • ENSP00000355865 (9606)
  • ENSMUSP00000063644 (10090)
  • ENSRNOP00000048773 (10116)
  • ENSMMUP00000026859 (9544)
  • ENSP00000355865 (9606)



  • Edit \ Update (Admin) | Delete

    Comment on This Data Unit