LongevityMap variant group

Entry Details

Longevity Association
Significant
Population
Italian
Study Design
722 unrelated subjects (401 women and 321 men, mean age, 62.83±25.30 years; 514 subjects aged <85y, mean age = 49 ± 16 year, and 208 individuals aged from 86 y to 104 y, mean age=96 ± 4) were analyzed to assess the impact of specific IRS-2, IGF1R and UCP2 gene variants with longevity
Conclusions
A IGF1R/Asp-IRS2/Val-UCP2 allele combination was associated with an increased probability to reach extreme old age (OD = 3.185 95% CI, 1.63–6.19; p < 0.0006)

Variants (4)

IGF1R

1.
Identifier
rs2229765
In Other Studies (IDs)
325 2199
Cytogenetic Location
15q26.3
UCSC Genome Browser
View 15q26.3 on the UCSC genome browser

Gene details

HGNC symbol
IGF1R
Aliases
IGFR; CD221; IGFIR; JTK13 
Common name
insulin like growth factor 1 receptor 
Description
This receptor binds insulin-like growth factor with a high affinity. It has tyrosine kinase activity. The insulin-like growth factor I receptor plays a critical role in transformation events. Cleavage of the precursor generates alpha and beta subunits. It is highly overexpressed in most malignant tissues where it functions as an anti-apoptotic agent by enhancing cell survival. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]
Other longevity studies of this gene
10
OMIM
147370
Ensembl
ENSG00000140443
UniProt/Swiss-Prot
C9J5X1_HUMAN
Entrez Gene
3480
UniGene
643120
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
daf-2
Danio rerio
igf1ra
Danio rerio
igf1rb
Drosophila melanogaster
InR
Mus musculus
Igf1r
Rattus norvegicus
Igf1r

In other databases

GenAge model organism genes
  • A homolog of this gene for Caenorhabditis elegans is present as daf-2
  • A homolog of this gene for Mus musculus is present as Igf1r
  • A homolog of this gene for Drosophila melanogaster is present as InR
GenAge human genes
  • This gene is present as IGF1R
GenDR gene manipulations
  • A homolog of this gene for Drosophila melanogaster is present as InR
  • A homolog of this gene for Caenorhabditis elegans is present as daf-2

IRS2

1.
Identifier
rs1805097
Cytogenetic Location
13q34
UCSC Genome Browser
View 13q34 on the UCSC genome browser

Gene details

HGNC symbol
IRS2
Aliases
IRS-2 
Common name
insulin receptor substrate 2 
Description
This gene encodes the insulin receptor substrate 2, a cytoplasmic signaling molecule that mediates effects of insulin, insulin-like growth factor 1, and other cytokines by acting as a molecular adaptor between diverse receptor tyrosine kinases and downstream effectors. The product of this gene is phosphorylated by the insulin receptor tyrosine kinase upon receptor stimulation, as well as by an interleukin 4 receptor-associated kinase in response to IL4 treatment. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
1
OMIM
600797
Ensembl
ENSG00000185950
UniProt/Swiss-Prot
IRS2_HUMAN
Entrez Gene
8660
UniGene
442344
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
irs2a
Danio rerio
irs2b
Drosophila melanogaster
chico
Mus musculus
Irs2
Rattus norvegicus
Irs2

In other databases

GenAge model organism genes
  • A homolog of this gene for Drosophila melanogaster is present as chico
  • A homolog of this gene for Mus musculus is present as Irs2
GenAge human genes
  • This gene is present as IRS2
GenDR gene expression
  • A homolog of this gene for Mus musculus is present as Irs2
GenDR gene manipulations
  • A homolog of this gene for Drosophila melanogaster is present as chico

UCP2

1.
Identifier
rs660339
In Other Studies (IDs)
332
Cytogenetic Location
11q13.4
UCSC Genome Browser
View 11q13.4 on the UCSC genome browser
2.
Identifier
rs659366
In Other Studies (IDs)
2451
Cytogenetic Location
11q13.4
UCSC Genome Browser
View 11q13.4 on the UCSC genome browser

Gene details

HGNC symbol
UCP2
Aliases
UCPH; BMIQ4; SLC25A8 
Common name
uncoupling protein 2 
Description
Mitochondrial uncoupling proteins (UCP) are members of the larger family of mitochondrial anion carrier proteins (MACP). UCPs separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. UCPs facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. Tissue specificity occurs for the different UCPs and the exact methods of how UCPs transfer H+/OH- are not known. UCPs contain the three homologous protein domains of MACPs. This gene is expressed in many tissues, with the greatest expression in skeletal muscle. It is thought to play a role in nonshivering thermogenesis, obesity and diabetes. Chromosomal order is 5'-UCP3-UCP2-3'. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
7
OMIM
601693
Ensembl
ENSG00000175567
UniProt/Swiss-Prot
A0A024R5N5_HUMAN
Entrez Gene
7351
UniGene
80658
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
ucp2
Mus musculus
Ucp2
Rattus norvegicus
Ucp2
Saccharomyces cerevisiae
DIC1

In other databases

GenAge model organism genes
  • A homolog of this gene for Drosophila melanogaster is present as UCP2
  • A homolog of this gene for Mus musculus is present as Ucp2
GenAge human genes
  • This gene is present as UCP2
GenDR gene manipulations
  • A homolog of this gene for Caenorhabditis elegans is present as ucp2

References

Barbieri et al. (2012)

Other variants which are also part of this study