LongevityMap variant group

Entry Details

Longevity Association: Non-significant
Population: Italian (Southern)
Study Design: The variability of the three human genes (NOS1, NOS2, NOS3) was studied in a large sample (763 subjects, age range 19–107 years, median age 81 years). The sample analyzed included 417 females and 346 males.
Conclusions: None of the tested single nucleotide polymorphisms, excepting rs1879417, showed a significant association with the longevity phenotype. The NOS2 rs2297518 SNP was only marginally associated with longevity.

HGNC symbol: NOS1
Aliases: NOS; bNOS; nNOS; IHPS1; N-NOS; NC-NOS
Common name: nitric oxide synthase 1
Description: The protein encoded by this gene belongs to the family of nitric oxide synthases, which synthesize nitric oxide from L-arginine. Nitric oxide is a reactive free radical, which acts as a biologic mediator in several processes, including neurotransmission, and antimicrobial and antitumoral activities. In the brain and peripheral nervous system, nitric oxide displays many properties of a neurotransmitter, and has been implicated in neurotoxicity associated with stroke and neurodegenerative diseases, neural regulation of smooth muscle, including peristalsis, and penile erection. This protein is ubiquitously expressed, with high level of expression in skeletal muscle. Multiple transcript variants that differ in the 5' UTR have been described for this gene but the full-length nature of these transcripts is not known. Additionally, alternatively spliced transcript variants encoding different isoforms (some testis-specific) have been found for this gene.[provided by RefSeq, Feb 2011]
Other longevity studies of this gene: 1
OMIM: 163731
Ensembl: ENSG00000089250
UniProt/Swiss-Prot: A0PJJ7_HUMAN
Entrez Gene: 4842
UniGene: 654410
HapMap: View on HapMap

HGNC symbol: NOS2
Aliases: NOS; INOS; NOS2A; HEP-NOS
Common name: nitric oxide synthase 2
Description: Nitric oxide is a reactive free radical which acts as a biologic mediator in several processes, including neurotransmission and antimicrobial and antitumoral activities. This gene encodes a nitric oxide synthase which is expressed in liver and is inducible by a combination of lipopolysaccharide and certain cytokines. Three related pseudogenes are located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene: 1
OMIM: 163730
Ensembl: ENSG00000007171
UniProt/Swiss-Prot: NOS2_HUMAN
Entrez Gene: 4843
UniGene: 709191
HapMap: View on HapMap

HGNC symbol: NOS3
Aliases: eNOS; ECNOS
Common name: nitric oxide synthase 3
Description: Nitric oxide is a reactive free radical which acts as a biologic mediator in several processes, including neurotransmission and antimicrobial and antitumoral activities. Nitric oxide is synthesized from L-arginine by nitric oxide synthases. Variations in this gene are associated with susceptibility to coronary spasm. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Oct 2016]
Other longevity studies of this gene: 13
OMIM: 163729
Ensembl: ENSG00000164867
UniProt/Swiss-Prot: A0A0A0MTA6_HUMAN
Entrez Gene: 4846
UniGene: 647092
HapMap: View on HapMap

GenAge model organism genes

Montesanto et al. (2013)