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FLASH GENE
Symbol NFAT5 contributors: mct/npt/pgu - updated : 20-03-2015
HGNC name nuclear factor of activated T-cells 5, tonicity-responsive
HGNC id 7774
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --over  
significantly higher in the preeclamptic compared to normal placentas
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
SystemTypeDisorderPubmed
immunologyimmunodeficiency 
long terminal repeat site NFAT5 interaction may thus present a novel therapeutic target to suppress HIV-1 replication and progression of AIDS
ANIMAL & CELL MODELS
  • TonEBP mutant mice display marked decrement in the expression of AQP1 in the inner medulla
  • Nfat5-deficient mice present severe atrophy of the renal medulla, systemic hypernatremia, and a reduced thymocyte compartment and mature T-cell lymphopenia