LongevityMap variant

Entry Details

Longevity Association
Significant
Population
Ashkenazi Jewish (Jerusalem)
Study Design
A/G ApaI site SNP was examined in 224 older (75 years) Jewish Jerusalem residents of Ashkenazi ethnicity (150 males and 74 females) and a group of 441 younger subjects (22 years)
Conclusions
An increase in the A allele was observed in older Ashkenazi females and a highly significant increase was observed in the AA genotype in these subjects
Identifier
A/G ApaI site
Cytogenetic Location
11p15.5
UCSC Genome Browser
View 11p15.5 on the UCSC genome browser

Gene details

HGNC symbol
IGF2
Aliases
GRDF; IGF-II; PP9974; C11orf43 
Common name
insulin like growth factor 2 
Description
This gene encodes a member of the insulin family of polypeptide growth factors, which are involved in development and growth. It is an imprinted gene, expressed only from the paternal allele, and epigenetic changes at this locus are associated with Wilms tumour, Beckwith-Wiedemann syndrome, rhabdomyosarcoma, and Silver-Russell syndrome. A read-through INS-IGF2 gene exists, whose 5' region overlaps the INS gene and the 3' region overlaps this gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]
Other longevity studies of this gene
6
OMIM
147470
Ensembl
ENSG00000167244
UniProt/Swiss-Prot
E3UN46_HUMAN
Entrez Gene
3481
UniGene
272259
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
igf2a
Mus musculus
Igf2
Rattus norvegicus
Igf2

In other databases

GenAge human genes
  • This gene is present as IGF2

References

Stessman et al. (2005)

Other variants which are also part of this study