LongevityMap Gene
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]
- Cytogenetic Location
- 6q25.3
- UCSC Genome Browser
- View 6q25.3 on the UCSC genome browser
- OMIM
- 147280
- Ensembl
- ENSG00000197081
- UniProt/Swiss-Prot
- MPRI_HUMAN
- Entrez Gene
- 3482
- UniGene
- 487062
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
In other databases
- CellAge gene expression
- This gene is present as IGF2R
Studies (1)
Significant/Non-significant: 1/0
- 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.
- Indentifier
- rs9456497
- Reference