PTPRN2, variants, traits, and what the research shows

PTPRN2 - what this gene does

PTPRN2 is a human gene whose catalogued variants, based on the data available, span associations across rare diseases, hearing, immune function, cancer, and kidney conditions. The details below are grounded strictly in the variant-to-trait associations on file.

Key takeaways

• Three variants carry the highest signal scores in the dataset, all linked to rare disease categories
• Separate variants connect this gene to hearing, immune system, cancer, kidney, and musculoskeletal traits
• Two independent cancer-linked variants appear in the data, suggesting it surfaces across more than one cancer-related study
• Most associations derive from GWAS - population-level genome scans - not individual-level predictors
• 160 variants are catalogued in total; 30 carry prior research summaries

Notable variants

The three highest-scoring variants in this dataset - rs138046898, rs144856548, and rs145671265 - each reach a magnitude (a combined measure of effect size and evidence strength) of 5.50, all associated with rare disease categories. Within the next tier (magnitude 4.50), rs10081191 is linked to hearing traits, rs111372745 to immune function, rs117114682 and rs569835421 both to cancer, rs11981907 to kidney traits, and rs188107551 to musculoskeletal conditions. A fourth rare disease signal, rs186948048, also sits in this magnitude tier.

Trait associations

Rare disease is the most prominent theme, represented across two magnitude levels by rs138046898, rs144856548, rs145671265, and rs186948048. Cancer associations appear in at least two independent variants - rs117114682 and rs569835421 - which, while not formal replication, indicates this gene surfaces in more than one cancer-related dataset. Hearing traits are linked through rs10081191, immune traits through rs111372745, kidney traits through rs11981907, and musculoskeletal conditions through rs188107551.

Evidence quality

Of the 160 catalogued variants, 30 carry prior research summaries; published editorial pages exist for rs10081191, rs111372745, rs117114682, rs117576703, and rs11981907. The top-tier rare disease signals at magnitude 5.50 may originate from smaller, more targeted studies rather than large-scale GWAS - genome-wide association studies that scan many thousands of people's genomes for variants statistically associated with a trait - and should be interpreted with appropriate caution. Effect sizes, sample sizes, and replication status across independent cohorts are not available in the current dataset for most variants, which limits how firmly any single association can be characterized.

What this is NOT

These variants are population-level statistical signals from research studies, not deterministic predictors of any trait or health outcome for any individual. This content is strictly informational; we do not prescribe, diagnose, or advise any medical action.