TPTE2
Transmembrane Phosphatase with Tensin Homology 2
Gene Information Card
| Symbol | TPTE2 |
|---|---|
| Full Name | Transmembrane Phosphatase with Tensin Homology 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 13q12.3 |
| NCBI Gene ID | 93492 ncbi.nlm.nih.gov/gene/93492 |
| Ensembl ID | ENSG00000134871 |
| UniProt ID | Q6XPS3 |
| OMIM ID | 609460 |
| HGNC ID | 24952 |
| Aliases | TPIP, C13orf1, PTEN2 |
Description
TPTE2 (Transmembrane Phosphatase with Tensin Homology 2) is a protein-coding gene located on chromosome 13q12.3. It encodes a transmembrane phosphatase that shares homology with PTEN (phosphatase and tensin homolog). The protein is involved in phosphatidylinositol signaling and may play a role in spermatogenesis and tumor suppression. TPTE2 is predominantly expressed in testis and certain cancer cell lines.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate cancer | Potential tumor suppressor via PI3K/AKT pathway modulation; loss of expression may contribute to oncogenesis | COSMIC, NCBI |
| Testicular germ cell tumors | Altered expression linked to spermatogenesis disruption | NCBI, UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Prostate | 1.2 | Low |
| Brain | 0.8 | Low |
| Kidney | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 0.3 | Low expression |
| HEK293 | 0.1 | Not detected |
| LNCaP | 2.1 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.1% | Unknown functional impact |
| c.100C>T | Nonsense | <0.1% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations may lead to truncated protein and loss of phosphatase activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • phosphatidylinositol-3 | • 4 |
| • 5-trisphosphate 3-phosphatase activity | • 4-bisphosphate 3-phosphatase activity |
| • membrane | • cytoplasm |
Pathways
• PI3K/AKT signaling
• Phosphatidylinositol phosphate metabolism
Protein Summary
TPTE2 encodes a 553-amino acid transmembrane protein with a phosphatase domain homologous to PTEN. It dephosphorylates phosphatidylinositol 3,4,5-trisphosphate (PIP3) and phosphatidylinositol 3,4-bisphosphate (PI(3,4)P2), thereby negatively regulating the PI3K/AKT signaling pathway. The protein is localized to the plasma membrane and endoplasmic reticulum. Its expression is enriched in testis, suggesting a role in male fertility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TPTE2 Knockout HEK293 Cell Line | EDJ-KQ11236 | Human | 93492 | Details Get a Quote |
| TPTE2 Knockout HeLa Cell Line | EDJ-KQ57865 | Human | 93492 | Details Get a Quote |
| TPTE2 Knockout A-549 Cell Line | EDJ-KQ66361 | Human | 93492 | Details Get a Quote |
| TPTE2 Knockout HCT 116 Cell Line | EDJ-KQ74784 | Human | 93492 | Details Get a Quote |
