rs2335842

This is a intron variant variant in the PTPRN2 gene.

GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

gut microbiome measurement, allergen exposure measurement

Stickley SA et al. Gene-by-environment interactions modulate the infant gut microbiota in asthma and atopy. The Journal of Allergy and Clinical Immunology 156(2):433-448 (2025)
Allele G
OR 0.03
p 2.0e-8
N 688
Small GWAS
multi-ancestry

About PTPRN2

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]

View all PTPRN2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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