PTPN2: Protein Tyrosine Phosphatase Non-Receptor Type 2
A key regulator of immune signaling and tumor suppression, implicated in autoimmune diseases and cancer.
Gene Information Card
| Symbol | PTPN2 |
|---|---|
| Full Name | Protein Tyrosine Phosphatase Non-Receptor Type 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 18p11.21 |
| NCBI Gene ID | 5771 ncbi.nlm.nih.gov/gene/5771 |
| Ensembl ID | ENSG00000110799 |
| UniProt ID | P17706 |
| OMIM ID | 176887 |
| HGNC ID | 9650 |
| Aliases | TC-PTP, TCELLPTP, PTN2, PTPT |
Description
PTPN2 encodes a non-receptor protein tyrosine phosphatase that negatively regulates multiple signaling pathways, including JAK-STAT, insulin receptor, and T cell receptor signaling. It is widely expressed and plays a critical role in immune homeostasis, inflammation, and tumor suppression. Loss-of-function mutations are associated with autoimmune diseases and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Inflammatory Bowel Disease (IBD) | Loss-of-function variants impair negative regulation of JAK-STAT signaling, leading to enhanced inflammatory cytokine responses. | ClinVar, GWAS studies |
| Type 1 Diabetes | PTPN2 variants affect T cell apoptosis and cytokine signaling, contributing to autoimmune beta-cell destruction. | ClinVar, literature |
| Rheumatoid Arthritis | Reduced PTPN2 activity enhances pro-inflammatory signaling in immune cells. | ClinVar, literature |
| Colorectal Cancer | Somatic mutations and loss of expression lead to increased STAT3 signaling and tumor progression. | COSMIC, literature |
| T-cell Acute Lymphoblastic Leukemia (T-ALL) | Inactivating mutations or deletions promote JAK1/STAT5 signaling, driving leukemogenesis. | COSMIC, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone Marrow | 12.3 | Medium |
| Spleen | 10.8 | Medium |
| Lymph Node | 9.5 | Medium |
| Thymus | 8.2 | Medium |
| Liver | 6.1 | Low |
| Kidney | 5.4 | Low |
| Brain | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 15.2 | High expression |
| HeLa (cervical cancer) | 8.7 | Moderate |
| A549 (lung cancer) | 6.3 | Moderate |
| MCF7 (breast cancer) | 4.1 | Low |
| HepG2 (liver cancer) | 3.8 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.744C>A (p.Tyr248Ter) | Nonsense | Rare (0.01%) | Loss of function; truncated protein |
| c.853C>T (p.Arg285Trp) | Missense | 0.05% | Impaired catalytic activity |
| c.1165G>A (p.Gly389Arg) | Missense | 0.02% | Reduced protein stability |
| c.1264A>G (p.Ile422Val) | Missense | 0.03% | Altered substrate specificity |
Mutation functional classification
Loss of Function (LOF)
Most PTPN2 mutations in disease are loss-of-function, leading to hyperactivation of JAK-STAT and other signaling pathways.
Gain of Function (GOF)
Gain-of-function mutations are rare and not well characterized; they may theoretically enhance phosphatase activity and suppress signaling.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by dimerizing with wild-type protein, reducing overall activity.
View complete mutation data：
Gene Ontology (GO)
| • protein tyrosine phosphatase activity | • protein tyrosine/serine/threonine phosphatase activity |
| • non-membrane spanning protein tyrosine phosphatase activity | • signal transduction |
| • negative regulation of JAK-STAT cascade | • protein dephosphorylation |
| • cell migration | • immune response |
Pathways
• JAK-STAT signaling pathway
• T cell receptor signaling pathway
• Insulin receptor signaling pathway
• Cytokine-cytokine receptor interaction
• PD-1/PD-L1 checkpoint pathway
Protein Summary
PTPN2 encodes a 485-amino acid protein tyrosine phosphatase (TC-PTP) with two isoforms generated by alternative splicing. The protein contains a single catalytic domain and a C-terminal region that determines subcellular localization. TC-PTP dephosphorylates key signaling molecules such as JAK1, JAK3, STAT1, STAT3, and the insulin receptor, thereby modulating cell growth, differentiation, and immune responses. It is a critical tumor suppressor in hematological malignancies and a negative regulator of inflammation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PTPN2 Knockout HEK293 Cell Line | EDJ-KQ524 | Human | 5771 | Details Get a Quote |
| PTPN22 Knockout HEK293 Cell Line | EDJ-KQ3809 | Human | 26191 | Details Get a Quote |
| PTPN21 Knockout HEK293 Cell Line | EDJ-KQ7285 | Human | 11099 | Details Get a Quote |
| PTPN2 Knockout A-549 Cell Line | EDJ-KQ18860 | Human | 5771 | Details Get a Quote |
| PTPN2 Knockout HCT 116 Cell Line | EDJ-KQ18861 | Human | 5771 | Details Get a Quote |
| PTPN2 Knockout HeLa Cell Line | EDJ-KQ18862 | Human | 5771 | Details Get a Quote |
| PTPN21 Knockout A-549 Cell Line | EDJ-KQ32316 | Human | 11099 | Details Get a Quote |
| PTPN21 Knockout HCT 116 Cell Line | EDJ-KQ32317 | Human | 11099 | Details Get a Quote |
| PTPN21 Knockout HeLa Cell Line | EDJ-KQ32318 | Human | 11099 | Details Get a Quote |
| PTPN20 Knockout HEK293 Cell Line | EDJ-KQ51164 | Human | 26095 | Details Get a Quote |
| PTPN20 Knockout HeLa Cell Line | EDJ-KQ55882 | Human | 26095 | Details Get a Quote |
| PTPN22 Knockout HeLa Cell Line | EDJ-KQ55894 | Human | 26191 | Details Get a Quote |
| PTPN20 Knockout A-549 Cell Line | EDJ-KQ64372 | Human | 26095 | Details Get a Quote |
| PTPN22 Knockout A-549 Cell Line | EDJ-KQ64384 | Human | 26191 | Details Get a Quote |
| PTPN20 Knockout HCT 116 Cell Line | EDJ-KQ72823 | Human | 26095 | Details Get a Quote |
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