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.

Variants (5)

NOS1

1.
Identifier
rs2682826
Cytogenetic Location
12q24.22
UCSC Genome Browser
View 12q24.22 on the UCSC genome browser

Gene details

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

Homologs in model organisms

Danio rerio
nos1
Mus musculus
Nos1
Rattus norvegicus
Nos1

NOS2

1.
Identifier
rs10459953
Cytogenetic Location
17q11.2
UCSC Genome Browser
View 17q11.2 on the UCSC genome browser
2.
Identifier
rs2297518
Cytogenetic Location
17q11.2
UCSC Genome Browser
View 17q11.2 on the UCSC genome browser

Gene details

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

Homologs in model organisms

Danio rerio
nos2a
Drosophila melanogaster
Nos
Mus musculus
Nos2
Rattus norvegicus
LOC497963

NOS3

1.
Identifier
rs10277237
Cytogenetic Location
7q36.1
UCSC Genome Browser
View 7q36.1 on the UCSC genome browser
2.
Identifier
rs1799983
In Other Studies (IDs)
2682
Cytogenetic Location
7q36.1
UCSC Genome Browser
View 7q36.1 on the UCSC genome browser

Gene details

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

Homologs in model organisms

Mus musculus
Nos3
Rattus norvegicus
Nos3

In other databases

GenAge model organism genes
  • A homolog of this gene for Mus musculus is present as Nos3

References

Montesanto et al. (2013)

Other variants which are also part of this study