LongevityMap variant group

Entry Details

Longevity Association
Significant
Population
Italian
Study Design
The G/A, codon 1013 polymorphism was examined in healthy people 17-85 yr of age (n= 278; mean age, 54.8; 76 males and 202 females) and in healthy people 86-109 yr of age (n= 218; mean age, 98.0; 56 males and 162 females)
Conclusions
The analysis revealed lower free IGF-I plasma levels in IGF1R A subjects (AG and AA genotypes) than in A- (GG genotype) subjects. A subjects were more represented among long-lived people than in young people.

Variants (2)

1.
Identifier
G/A
Cytogenetic Location
15q26.3
UCSC Genome Browser
View 15q26.3 on the UCSC genome browser
2.
Identifier
codon 1013
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

References

Bonafè et al. (2003)

Other variants which are also part of this study