PTPRN2
Protein Tyrosine Phosphatase Receptor Type N2
Gene Information Card
| Symbol | PTPRN2 |
|---|---|
| Full Name | Protein Tyrosine Phosphatase Receptor Type N2 |
| Gene Type | protein-coding |
| Chromosomal Location | 7q36.3 |
| NCBI Gene ID | 5799 ncbi.nlm.nih.gov/gene/5799 |
| Ensembl ID | ENSG00000155093 |
| UniProt ID | Q92932 |
| OMIM ID | 601869 |
| HGNC ID | 9676 |
| Aliases | IA-2β, IAR, ICAAR, PTPRP, RPTP-β |
Description
PTPRN2 encodes a member of the protein tyrosine phosphatase (PTP) family, specifically a receptor-type PTP. The protein is a transmembrane autoantigen in insulin-dependent diabetes mellitus (IDDM) and is expressed primarily in neuroendocrine tissues. It is involved in insulin secretion and vesicle trafficking.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Insulin-Dependent Diabetes Mellitus (IDDM) | Autoantibodies against PTPRN2 contribute to beta-cell destruction | PMID: 7684472 |
| Type 1 Diabetes | Autoantigen in pancreatic islet cells | PMID: 7539795 |
| Breast Cancer | Overexpression linked to poor prognosis | PMID: 25691885 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Pancreas | 8.7 | Medium |
| Testis | 6.5 | Low |
| Adrenal Gland | 5.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.1 | Neuroblastoma cell line |
| INS-1 | 22.4 | Rat insulinoma cell line |
| MCF7 | 3.2 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | 0.01% | Reduced phosphatase activity |
| c.567_569del | In-frame deletion | <0.01% | Altered protein localization |
Mutation functional classification
Loss of Function (LOF)
Missense mutations reducing phosphatase activity impair insulin secretion.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • protein tyrosine phosphatase activity | • transmembrane receptor protein tyrosine phosphatase activity |
| • insulin secretion | • vesicle-mediated transport |
Pathways
• Insulin secretion
• Type I diabetes mellitus
Protein Summary
PTPRN2 is a 1037-amino acid transmembrane protein with a single catalytic PTP domain. It localizes to secretory vesicles and regulates insulin granule exocytosis. The protein is a major autoantigen in type 1 diabetes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PTPRN2 Knockout HEK293 Cell Line | EDJ-KQ5606 | Human | 5799 | Details Get a Quote |
| PTPRN2 Knockout HCT 116 Cell Line | EDJ-KQ28890 | Human | 5799 | Details Get a Quote |
| PTPRN2 Knockout HeLa Cell Line | EDJ-KQ54276 | Human | 5799 | Details Get a Quote |
| PTPRN2 Knockout A-549 Cell Line | EDJ-KQ62768 | Human | 5799 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
