GeneID: 33


Common Name: NOS2 Type: Gene
Chromosome: 17 (NC_000017.11) Locus: NG_011470.1 (NOS2A)
HUGO Symbol: NOS2 Full Name: nitric oxide synthase 2
Exons: 27 Introns: 26

Nitric oxide synthase (NOS) catalyzes the oxidation of L-arginine to produce nitric oxide (NO), which functions as a second messenger in a variety of processes, such as neurotransmission and inflammation. The NOS2 gene encodes for nitric oxide synthase-2, a cytokine-inducible NOS (iNOS) expressed in the liver. The NO activates soluble guanylate cyclase to increase cytosolic cyclic guanylyl monophosphate (cGMP), which in turn interacts with transcription factors increasing the expression of the γ-globin genes. The observation that both NOS and γ-globin levels decrease during erythroid cell differentiation further supports NOS association with HbF induction via the production and action of NO. Single nucleotide variants in the NOS2 gene associated with the response to hydroxyurea treatment in patients with sickle cell disease.

Synonyms: HEP-NOS , iNOS , NOS , nitric oxide synthase 2, inducible , nitric oxide synthase 2A (inducible, hepatocytes) , NOS2A


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Publications / Origin

  1. Bloch KD, Wolfram JR, Brown DM, Roberts JD, Zapol DG, Lepore JJ, Filippov G, Thomas JE, Jacob HJ, Bloch DB, Three members of the nitric oxide synthase II gene family (NOS2A, NOS2B, and NOS2C) colocalize to human chromosome 17., Genomics , 27(3), 526-30, 1995 PubMed
  2. Rutherford S, Johnson MP, Curtain RP, Griffiths LR, Chromosome 17 and the inducible nitric oxide synthase gene in human essential hypertension., Hum. Genet. , 109(4), 408-15, 2001 PubMed
  3. Ma Q, Wyszynski DF, Farrell JJ, Kutlar A, Farrer LA, Baldwin CT, Steinberg MH, Fetal hemoglobin in sickle cell anemia: genetic determinants of response to hydroxyurea., Pharmacogenomics J. , 7(6), 386-94, 2007 PubMed
  4. Chalikiopoulou C, Tavianatou AG, Sgourou A, Kourakli A, Kelepouri D, Chrysanthakopoulou M, Kanelaki VK, Mourdoukoutas E, Siamoglou S, John A, Symeonidis A, Ali BR, Katsila T, Papachatzopoulou A, Patrinos GP, Genomic variants in the ASS1 gene, involved in the nitric oxide biosynthesis and signaling pathway, predict hydroxyurea treatment efficacy in compound sickle cell disease/β-thalassemia patients., Pharmacogenomics , 17(4), 393-403, 2016 PubMed
  5. Kolliopoulou A, Siamoglou S, John A, Sgourou A, Kourakli A, Symeonidis A, Vlachaki E, Chalkia P, Theodoridou S, Ali BR, Katsila T, Patrinos GP, Papachatzopoulou A, Role of Genomic Biomarkers in Increasing Fetal Hemoglobin Levels Upon Hydroxyurea Therapy and in β-Thalassemia Intermedia: A Validation Cohort Study., Hemoglobin, 2019 PubMed
Created on 2014-04-01 14:19:10, Last reviewed on 2016-04-28 13:53:08 (Show full history)

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