LongevityMap variant group

Entry Details

Longevity Association
Significant
Population
Ashkenazi Jewish
Study Design
Genetic variation in IGF1 and IGF1R were examined in a cohort of Ashkenazi Jewish centenarians (286 females and 98 males, average age 97.7 years), their offspring (114 females and 174 males, mean age 67.8 years), and offspring-matched controls (n = 312, mean age 79.5 years)
Conclusions
There was an overrepresentation of two nonsynonymous mutations in the IGF1R gene among centenarians relative to controls. These are also associated with high serum IGFI levels and reduced activity of the IGFIR as measured in transformed lymphocytes.

Variants (2)

1.
Identifier
1545G>A
Cytogenetic Location
15q26.3
UCSC Genome Browser
View 15q26.3 on the UCSC genome browser
2.
Identifier
4103C>T
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

Suh et al. (2008)

Other variants which are also part of this study