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
In other databases
- GenAge human genes
- This gene is present as IGF2