PTPN7
Protein Tyrosine Phosphatase Non-Receptor Type 7
Gene Information Card
| Symbol | PTPN7 |
|---|---|
| Full Name | Protein Tyrosine Phosphatase Non-Receptor Type 7 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q32.1 |
| NCBI Gene ID | 5778 ncbi.nlm.nih.gov/gene/5778 |
| Ensembl ID | ENSG00000134243 |
| UniProt ID | P35236 |
| OMIM ID | 176889 |
| HGNC ID | 9656 |
| Aliases | BPTP-4, HePTP, LPTP, PTPN7v1, PTPN7v2 |
Description
PTPN7 encodes a member of the protein tyrosine phosphatase (PTP) family, specifically a non-receptor type phosphatase. The encoded protein, also known as hematopoietic protein tyrosine phosphatase (HePTP), is predominantly expressed in hematopoietic cells. It negatively regulates T cell receptor (TCR) signaling by dephosphorylating and inactivating key signaling molecules such as ERK1/2 and p38 MAP kinases. PTPN7 plays a critical role in immune cell homeostasis and has been implicated in various hematologic malignancies and autoimmune conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute myeloid leukemia (AML) | Deregulated MAPK signaling due to altered PTPN7 expression or activity | COSMIC, ClinVar |
| Chronic myeloid leukemia (CML) | Impaired negative regulation of ERK pathway; potential tumor suppressor role | COSMIC, NCBI |
| T-cell acute lymphoblastic leukemia (T-ALL) | Loss of PTPN7 function leads to sustained TCR signaling and proliferation | ClinVar, OMIM |
| Lymphoma | Altered PTPN7 expression contributes to aberrant cell survival | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Spleen | 12.5 | Medium |
| Lymph node | 10.8 | Medium |
| Bone marrow | 9.2 | Medium |
| Thymus | 8.7 | Medium |
| Whole blood | 6.3 | Low |
| Lung | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (CML) | 15.4 | High expression |
| HL-60 (AML) | 12.1 | High expression |
| Jurkat (T-ALL) | 18.7 | Very high expression |
| Raji (Burkitt lymphoma) | 7.8 | Medium expression |
| HEK293 (embryonic kidney) | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.205C>T (p.Arg69Trp) | Missense | <0.1% in AML | Potential loss of phosphatase activity |
| c.340G>A (p.Glu114Lys) | Missense | <0.1% in T-ALL | Altered substrate binding |
| c.487_489del (p.Lys163del) | In-frame deletion | <0.1% in CML | Reduced protein stability |
| c.1A>G (p.Met1Val) | Start loss | <0.1% in lymphoma | Loss of translation initiation |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg69Trp) reduce catalytic activity, impairing negative regulation of MAPK signaling.
Gain of Function (GOF)
Not reported in curated databases.
Dominant Negative (DN)
Not reported in curated databases.
View complete mutation data：
Gene Ontology (GO)
Pathways
• MAPK signaling pathway (KEGG: hsa04010)
• T cell receptor signaling pathway (KEGG: hsa04660)
• Fc epsilon RI signaling pathway (KEGG: hsa04664)
Protein Summary
PTPN7 encodes hematopoietic protein tyrosine phosphatase (HePTP), a 38 kDa cytoplasmic enzyme. It contains a single catalytic PTP domain and an N-terminal kinase interaction motif (KIM) that mediates binding to ERK1/2 and p38. HePTP dephosphorylates the activation loop tyrosine residues of these MAP kinases, thereby terminating signaling. It is highly expressed in hematopoietic tissues and cell lines. Dysregulation of PTPN7 contributes to leukemogenesis and immune disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PTPN7 Knockout HEK293 Cell Line | EDJ-KQ741 | Human | 5778 | Details Get a Quote |
| PTPN7 Knockout HeLa Cell Line | EDJ-KQ54269 | Human | 5778 | Details Get a Quote |
| PTPN7 Knockout A-549 Cell Line | EDJ-KQ62761 | Human | 5778 | Details Get a Quote |
| PTPN7 Knockout HCT 116 Cell Line | EDJ-KQ71230 | Human | 5778 | Details Get a Quote |
