PTPRE: Protein Tyrosine Phosphatase Receptor Type E
A key regulator of immune signaling and cancer progression
Gene Information Card
| Symbol | PTPRE |
|---|---|
| Full Name | Protein Tyrosine Phosphatase Receptor Type E |
| Gene Type | protein-coding |
| Chromosomal Location | 10q26.2 |
| NCBI Gene ID | 5791 ncbi.nlm.nih.gov/gene/5791 |
| Ensembl ID | ENSG00000132356 |
| UniProt ID | P23469 |
| OMIM ID | 600926 |
| HGNC ID | 9669 |
| Aliases | PTPE, R-PTP-epsilon |
Description
PTPRE encodes a member of the protein tyrosine phosphatase (PTP) family. PTPs are signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This gene is specifically expressed in hematopoietic cells and is involved in the regulation of immune receptor signaling, particularly through dephosphorylation of Src family kinases. Alternative splicing results in multiple transcript variants encoding different isoforms.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered PTPRE expression may modulate Src kinase activity, affecting cell proliferation and migration. | COSMIC; PMID: 23455423 |
| Colorectal cancer | PTPRE overexpression correlates with poor prognosis; promotes tumor growth via STAT3 activation. | COSMIC; PMID: 25670082 |
| Autoimmune lymphoproliferative syndrome (ALPS) | PTPRE mutations may impair negative regulation of T-cell receptor signaling, leading to lymphoproliferation. | ClinVar; PMID: 21541274 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.8 | Medium |
| Bone marrow | 8.2 | Medium |
| Thymus | 7.6 | Low |
| Brain | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Jurkat (T-cell leukemia) | 15.3 | High expression |
| Raji (Burkitt lymphoma) | 11.7 | Medium expression |
| MCF7 (breast cancer) | 6.4 | Low expression |
| HEK293 (embryonic kidney) | 2.1 | Very low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123C>T (p.Arg375Trp) | Missense | 0.02% (COSMIC) | Loss of phosphatase activity; associated with immune dysregulation |
| c.1456G>A (p.Glu486Lys) | Missense | 0.01% (COSMIC) | Gain of function; increased Src dephosphorylation |
| c.789_790insA (p.Leu264fs) | Frameshift | <0.01% (COSMIC) | Loss of function; truncated protein |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the catalytic domain (e.g., p.Arg375Trp) reduce phosphatase activity, impairing negative regulation of immune signaling.
Gain of Function (GOF)
Mutations such as p.Glu486Lys enhance catalytic activity, leading to increased dephosphorylation of Src family kinases and altered cell signaling.
Dominant Negative (DN)
Frameshift or nonsense mutations producing truncated isoforms may interfere with wild-type PTPRE function in heterodimers.
View complete mutation data：
Gene Ontology (GO)
Pathways
• hsa04660 - T cell receptor signaling pathway
• hsa04020 - Calcium signaling pathway
• hsa05200 - Pathways in cancer
• hsa04630 - JAK-STAT signaling pathway
Protein Summary
PTPRE is a transmembrane receptor-type protein tyrosine phosphatase predominantly expressed in hematopoietic tissues. It negatively regulates T-cell and B-cell receptor signaling by dephosphorylating Src family kinases (e.g., Lck, Fyn). Alternative splicing generates a soluble isoform (cyt-PTPepsilon) that localizes to the cytoplasm and nucleus. Dysregulation of PTPRE is implicated in several cancers and autoimmune conditions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PTPRE Knockout HEK293 Cell Line | EDJ-KQ5603 | Human | 5791 | Details Get a Quote |
| PTPRE Knockout HCT 116 Cell Line | EDJ-KQ28885 | Human | 5791 | Details Get a Quote |
| PTPRE Knockout HeLa Cell Line | EDJ-KQ28886 | Human | 5791 | Details Get a Quote |
| PTPRE Knockout A-549 Cell Line | EDJ-KQ62766 | Human | 5791 | Details Get a Quote |
