LongevityMap Gene
Gene details
- HGNC symbol
- PTPRN2
- Aliases
- IAR; ICAAR; PTPRP; IA-2beta; R-PTP-N2
- Common name
- protein tyrosine phosphatase, receptor type N2
- Description
- This gene encodes a protein with sequence similarity to receptor-like protein tyrosine phosphatases. However, tyrosine phosphatase activity has not been experimentally validated for this protein. Studies of the rat ortholog suggest that the encoded protein may instead function as a phosphatidylinositol phosphatase with the ability to dephosphorylate phosphatidylinositol 3-phosphate and phosphatidylinositol 4,5-diphosphate, and this function may be involved in the regulation of insulin secretion. This protein has been identified as an autoantigen in insulin-dependent diabetes mellitus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]
- Cytogenetic Location
- 7q36.3
- UCSC Genome Browser
- View 7q36.3 on the UCSC genome browser
- OMIM
- 601698
- Ensembl
- ENSG00000155093
- UniProt/Swiss-Prot
- E7EM83_HUMAN
- Entrez Gene
- 5799
- UniGene
- 490789
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
- Caenorhabditis elegans
- ida-1
- Danio rerio
- ptprn2
- Drosophila melanogaster
- IA-2
- Mus musculus
- Ptprn2
- Rattus norvegicus
- Ptprn2
Studies (1)
Significant/Non-significant: 0/1
- Longevity Association
- Non-significant
- Population
- Caucasians
- Study Design
- Meta-analysis of GWAS in Caucasians from four prospective cohort studies: the Age, Gene/Environment Susceptibility-Reykjavik Study, the Cardiovascular Health Study, the Framingham Heart Study, and the Rotterdam Study participating in the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium. Longevity was defined as survival to age 90 years or older (n = 1,836); the comparison group comprised cohort members who died between the ages of 55 and 80 years (n = 1,955).
- Conclusions
- There were 273 single-nucleotide polymorphism (SNP) associations with p < .0001, but none reached significance after correcting for multiple testing
- Indentifier
- rs12698138
- Reference