NOS2

Description

The NOS2 (nitric oxide synthase 2) is a protein-coding gene located on chromosome 17.

Nitric oxide synthase, inducible is an enzyme encoded by the NOS2 gene in humans and mice. Three related pseudogenes are located within the Smith-Magenis syndrome region on chromosome 17. Alternative splicing of this gene results in two transcript variants encoding different isoforms. Nitric oxide synthase is expressed in epithelial cells of the liver, lung and bone marrow. It is inducible by a combination of lipopolysaccharide and certain cytokines. Nitric oxide is a reactive free radical mediating in neurotransmission, antimicrobial and antitumoral activities. In mice, the function of Nos2 in immunity against a number of viruses, bacteria, fungi, and parasites has been well characterized, whereas in humans the role of NOS2 has remained elusive and controversial. Nos2 is important for protective immunity against CMV. Caveolin 1 has been shown to interact with Nitric oxide synthase 2A and Rac2. Autosomal recessive NOS2 deficiency has been described in mice. They lack the gene encoding nitric oxide synthase 2 (Nos2) and are susceptible to murine CMV infection.

Produces nitric oxide (NO), a messenger molecule with diverse functions throughout the body. In macrophages, NO mediates tumoricidal and bactericidal actions. Also has nitrosylase activity and mediates cysteine S-nitrosylation of cytoplasmic target proteins such as PTGS2/COX2. As a component of the iNOS-S100A8/9 transnitrosylase complex, it's involved in the selective inflammatory stimulus-dependent S-nitrosylation of GAPDH on 'Cys-247', implicated in regulation of the GAIT complex activity and probably multiple targets including ANXA5, EZR, MSN and VIM. Involved in inflammation, enhances the synthesis of pro-inflammatory mediators such as IL6 and IL8.

NOS2 is also known as HEP-NOS, INOS, NOS, NOS2A.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing