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FLASH GENE
Symbol KDM3A contributors: mct - updated : 01-09-2016
HGNC name lysine (K)-specific demethylase 3A
HGNC id 20815
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral     --over  
in renal cancer cells that have lost the von Hippel Lindau tumor suppressor protein VHL and therefore display a deregulated expression of hypoxia-inducible factor
tumoral     --over  
in Ewing Sarcoma
tumoral     --over  
in human bladder carcinomas
tumoral     --over  
in renal cell carcinoma
constitutional     --over  
significantly increased in smooth muscle cells upon hypoxia treatment
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
  • can act as useful biomarker for predicting male infertility
  • Therapy target
  • loss of KDM3A is sufficient to reduce tumor growth
  • ANIMAL & CELL MODELS
  • Jhdm2a-deficient mice exhibit post-meitoic chromatin condensation defects and JHDM2A directly binds to and controls the expression of transition nuclear protein Tnp1 and protamine genes, suggesting that JHDM2A is essential for spermatogenesis