Gene: PTPRN2
Alternate names for this Gene: IA-2beta|IAR|ICAAR|PTPRP|R-PTP-N2
Gene Summary: 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.
Gene is located in Chromosome: 7
Location in Chromosome : 7q36.3
Description of this Gene: protein tyrosine phosphatase receptor type N2
Type of Gene: protein-coding
rs7802459 in
PTPRN2 gene and
Adolescent idiopathic scoliosis
PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
rs56283944 in
PTPRN2 gene and
Age at menarche
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs56211164 in
PTPRN2 gene and
Body mass index
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs117114682 in
PTPRN2 gene and
Breast Carcinoma
PMID 29059430 2017 Genome-Wide Association Study to Identify Susceptibility Loci That Modify Radiation-Related Risk for Breast Cancer After Childhood Cancer.
rs4272321 in
PTPRN2 gene and
Calcification of coronary artery
PMID 29221444 2017 Genome-wide association study of coronary artery calcified atherosclerotic plaque in African Americans with type 2 diabetes.
rs1242780 in
PTPRN2 gene and
Chronic Kidney Diseases
PMID 29545352 2018 Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms.
rs2533291 in
PTPRN2 gene and
Dermatitis, Atopic
PMID 25574825 2015 Genome-wide comparative analysis of atopic dermatitis and psoriasis gives insight into opposing genetic mechanisms.
rs4272321 in
PTPRN2 gene and
Diabetes Mellitus, Non-Insulin-Dependent
PMID 29221444 2017 Genome-wide association study of coronary artery calcified atherosclerotic plaque in African Americans with type 2 diabetes.
rs111630016 in
PTPRN2 gene and
Diastolic blood pressure
PMID 27841878 2017 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.
rs10949662 in
PTPRN2 gene and
Intelligence
PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.
PMID 29326435 2019 A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence.
PMID 31374203 2019 Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways.
rs1242780 in
PTPRN2 gene and
Kidney Failure, Chronic
PMID 29545352 2018 Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms.
rs117114682 in
PTPRN2 gene and
Malignant Childhood Neoplasm
PMID 29059430 2017 Genome-Wide Association Study to Identify Susceptibility Loci That Modify Radiation-Related Risk for Breast Cancer After Childhood Cancer.
rs1638021 in
PTPRN2 gene and
Myocardial Infarction
PMID 21211798 2011 Association of a polymorphism of BTN2A1 with myocardial infarction in East Asian populations.
rs10274279 in
PTPRN2 gene and
Myopia, Degenerative
PMID 23049088 2012 A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.
rs2533291 in
PTPRN2 gene and
Psoriasis
PMID 25574825 2015 Genome-wide comparative analysis of atopic dermatitis and psoriasis gives insight into opposing genetic mechanisms.
rs7802459 in
PTPRN2 gene and
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
rs11765189 in
PTPRN2 gene and
Schizophrenia
PMID 31374203 2019 Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways.
rs10281741 in
PTPRN2 gene and
Triglycerides measurement
PMID 31551469 2019 Genetic architecture of human plasma lipidome and its link to cardiovascular disease.
rs10949662 in
PTPRN2 gene and
mathematical ability
PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.