LongevityMap variant

Entry Details

Longevity Association
Significant
Population
Danish
Study Design
Alleles in candidate pathways (GH/IGF1 signaling, DNA damage signaling and repair and pro/antioxidants) were investigated for association with longevity in 1089 oldest-old (age 92-93) and 736 middle-aged Danes
Conclusions
Eleven SNPs (in GSR, KL, GHRHR, INS, GHSR, IGF2R, RAD52, WRN, RAD23B, POLB and NTLH1) were associated with longevity after correction for multiple hypothesis testing. No replications were observed in German and Dutch populations.
Identifier
rs9456497
Cytogenetic Location
6q25.3
UCSC Genome Browser
View 6q25.3 on the UCSC genome browser

Gene details

HGNC symbol
IGF2R
Aliases
MPR1; MPRI; CD222; CIMPR; M6P-R; MPR300; CI-M6PR; MPR; 300; M6P/IGF2R 
Common name
insulin like growth factor 2 receptor 
Description
This gene encodes a receptor for both insulin-like growth factor 2 and mannose 6-phosphate. The binding sites for each ligand are located on different segments of the protein. This receptor has various functions, including in the intracellular trafficking of lysosomal enzymes, the activation of transforming growth factor beta, and the degradation of insulin-like growth factor 2. Mutation or loss of heterozygosity of this gene has been association with risk of hepatocellular carcinoma. The orthologous mouse gene is imprinted and shows exclusive expression from the maternal allele; however, imprinting of the human gene may be polymorphic, as only a minority of individuals showed biased expression from the maternal allele (PMID:8267611). [provided by RefSeq, Nov 2015]
OMIM
147280
Ensembl
ENSG00000197081
UniProt/Swiss-Prot
MPRI_HUMAN
Entrez Gene
3482
UniGene
487062
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
igf2r
Mus musculus
Igf2r
Rattus norvegicus
Igf2r

References

Soerensen et al. (2012)

Other variants which are also part of this study