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FLASH GENE
Symbol NOS3 contributors: mct - updated : 03-02-2015
HGNC name nitric oxide synthase 3 (endothelial cell)
HGNC id 7876
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral     --over  
in squamous hyperplasia, dysplasia and squamous cell carcinoma of the head and neck
constitutional   LOH    
in atherosclerotic plaques
Susceptibility
  • coronary spasm
  • placental abruption
  • putative susceptibility factor for late onset Alzheimer disease
  • to embryonic spina bifida
  • myocardial infarction, coronary spasm and preeclampsia
  • to Fabry disease with severe phenotype
  • to hypertension, pregnancy-induced
  • to hypertension resistant to conventional therapy
  • to limb deficiency defects in the presence of maternal smoking
  • to coronary artery disease (CAD)
  • to altered vascular function
  • Variant & Polymorphism SNP , other
  • G894T not likely to be involved in atherosclerosis
  • E298D variant in hypertension in pregnancy and in lower age at end stage renal disease in PKD1
  • Glu 298 ASP in fabry disease with severe phenotype
  • SNP increasing the risk of limb deficiency defects in the presence of maternal smoking
  • G894T associated to embryonic spina bifida
  • intron 4-VNTR and T-786C mutation enhance the inflammatory process in patients with chronic coronary artery disease
  • polymorphism 894G>T associated with increased CAD risk
  • subjects carrying the rs753482-C genotype express a novel stable truncated form of NOS3 with altered enzymatic activity that influences endothelial function, and associated with altered vascular function
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    immunologyinflammatory 
    both SRC and NOS3 inhibition may be important therapeutic targets to prevent or limit vascular inflammation
    ANIMAL & CELL MODELS
  • mice deficient in endothelial NO synthase (Nos3-/-) show reduced VEGFA-induced mobilization of bone marrow progenitor cells to sites of injury