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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PTPRN2
protein tyrosine phosphatase receptor type N2
Chromosome 7 · 7q36.3
NCBI Gene: 5799Ensembl: ENSG00000155093.20HGNC: HGNC:9677UniProt: E7EM83
58PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Receptor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
signaling receptor complexsynaptic vesicle membraneregulation of secretionsecretory granulealcohol drinkingsmoking initiationattention deficit hyperactivity disorderovarian neoplasm
✦AI Summary

PTPRN2 encodes a protein tyrosine phosphatase receptor that lacks canonical phosphatase activity but plays critical roles in neuroendocrine function and vesicle-mediated secretion 1. Despite evolutionary loss of tyrosine phosphatase activity due to mutations in catalytic domains, PTPRN2 has acquired essential functions in insulin secretion, neurotransmitter regulation, and hormone release 1. The protein is essential for maintaining insulin-containing vesicles and glucose-stimulated insulin secretion in pancreatic β-cells 2. PTPRN2 demonstrates significant disease relevance across multiple conditions. In Parkinson's disease, it shows differential DNA methylation patterns in brain tissue, suggesting epigenetic regulation in neurodegeneration 3. The gene is implicated in diabetes susceptibility through transgenerational inheritance mechanisms involving DNA methylation changes that affect insulin secretion pathways 2. PTPRN2 expression is also associated with male fertility, being downregulated in heavy smokers with reduced sperm quality 4. Additionally, splicing variants in PTPRN2 have been identified in amyotrophic lateral sclerosis patients 5. The protein appears as a primary autoantigen in autoimmune diseases, potentially due to somatic mutations in its simple tandem repeat sequences 6. These findings establish PTPRN2 as a multifunctional protein critical for neuroendocrine regulation with broad implications for metabolic and neurological disorders.

Sources cited
1
PTPRN2 lacks canonical phosphatase activity but has essential neuroendocrine functions
PMID: 39926347
2
Essential for insulin secretion and shows transgenerational diabetes susceptibility via DNA methylation
PMID: 39934105
3
Shows differential DNA methylation in Parkinson's disease brain tissue
PMID: 39070644
4
Downregulated in heavy smokers with reduced sperm quality parameters
PMID: 37628668
5
Contains splicing variants identified in ALS patients
PMID: 39852553
6
Functions as a primary autoantigen in autoimmune diseases
PMID: 24988487
Disease Associationsⓘ20
alcohol drinkingOpen Targets
0.46Moderate
smoking initiationOpen Targets
0.41Moderate
attention deficit hyperactivity disorderOpen Targets
0.40Weak
ovarian neoplasmOpen Targets
0.39Weak
adolescent idiopathic scoliosisOpen Targets
0.36Weak
aneurysmOpen Targets
0.34Weak
neurodegenerative diseaseOpen Targets
0.33Weak
Alzheimer diseaseOpen Targets
0.32Weak
respiratory failureOpen Targets
0.32Weak
cancerOpen Targets
0.32Weak
mathematical abilityOpen Targets
0.31Weak
substance abuseOpen Targets
0.31Weak
risk-taking behaviourOpen Targets
0.31Weak
pathological myopiaOpen Targets
0.31Weak
preeclampsiaOpen Targets
0.29Weak
pregnancy disorderOpen Targets
0.29Weak
cervical carcinomaOpen Targets
0.28Weak
intelligenceOpen Targets
0.28Weak
systemic lupus erythematosusOpen Targets
0.28Weak
transient ischemic attackOpen Targets
0.28Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CPEProtein interaction71%PTPRNProtein interaction61%PPM1MShared pathway25%PTPN5Shared pathway25%CTDSP1Shared pathway25%DAPP1Shared pathway25%
Tissue Expression6 tissues
Brain
100%
Ovary
13%
Bone Marrow
8%
Heart
8%
Lung
4%
Liver
3%
Gene Interaction Network
Click a node to explore
PTPRN2CPEPTPRNPPM1MPTPN5CTDSP1DAPP1
PROTEIN STRUCTURE
Preparing viewer…
PDB4HTI · 1.95 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.81LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.66 [0.54–0.81]
RankingsWhere PTPRN2 stands among ~20K protein-coding genes
  • #7,907of 20,598
    Most Researched58
  • #6,813of 17,882
    Most Constrained (LOEUF)0.81
Genes detectedPTPRN2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
What is known and unknown about the role of neuroendocrine genes
PMID: 39926347
Front Endocrinol (Lausanne) · 2025
1.00
2
Bioinformatic analysis constructs an optimal prognostic index for survival-related variables (OPISV) based on whole-genome expression data in Glioblastoma.
PMID: 39505178
Int J Biol Macromol · 2024
0.90
3
Transgenerational inheritance of diabetes susceptibility in male offspring with maternal androgen exposure.
PMID: 39934105
Cell Discov · 2025
0.80
4
Parkinson's disease-associated shifts between DNA methylation and DNA hydroxymethylation in human brain in PD-related genes, including PARK19 (DNAJC6) and PTPRN2 (IA-2β).
PMID: 39070644
Res Sq · 2024
0.70
5
The Impact of Heavy Smoking on Male Infertility and Its Correlation with the Expression Levels of the
PMID: 37628668
Genes (Basel) · 2023
0.60