PTPRT: Protein Tyrosine Phosphatase Receptor Type T
A receptor-type protein tyrosine phosphatase implicated in neurodevelopment and cancer
Gene Information Card
| Symbol | PTPRT |
|---|---|
| Full Name | Protein tyrosine phosphatase receptor type T |
| Gene Type | Protein coding |
| Chromosomal Location | 20q12-q13.11 |
| NCBI Gene ID | 11122 ncbi.nlm.nih.gov/gene/11122 |
| Ensembl ID | ENSG00000101210 |
| UniProt ID | O14522 |
| OMIM ID | 608712 |
| HGNC ID | 9682 |
| Aliases | RPTPrho, PTPRT1, PTPRT2, PTPRT3 |
Description
PTPRT (Protein Tyrosine Phosphatase Receptor Type T) encodes a member of the receptor-type protein tyrosine phosphatase family. The protein contains an extracellular region with multiple fibronectin type III repeats and a cytoplasmic region with two tandem catalytic phosphatase domains. PTPRT is predominantly expressed in the brain and is involved in neuronal development, synaptic plasticity, and cell adhesion. Mutations and altered expression of PTPRT have been associated with various cancers, including colorectal, lung, and glioblastoma, suggesting a tumor suppressor role.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Loss of function mutations reduce phosphatase activity, promoting cell proliferation | COSMIC, ClinVar |
| Lung cancer | Somatic mutations and promoter hypermethylation lead to decreased expression | COSMIC, NCBI |
| Glioblastoma | Frequent mutations and copy number loss impair tumor suppression | COSMIC, NCBI |
| Autism spectrum disorder | Rare variants in PTPRT may disrupt synaptic signaling | ClinVar, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 45.2 | High |
| Testis | 12.1 | Medium |
| Lung | 3.4 | Low |
| Colon | 2.1 | Low |
| Liver | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 38.5 | High expression |
| A549 (lung carcinoma) | 4.2 | Low expression |
| HCT116 (colorectal carcinoma) | 1.9 | Very low expression |
| U87MG (glioblastoma) | 6.7 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | 0.5% in colorectal cancer | Loss of function |
| c.567G>A (p.Trp189*) | Nonsense | 0.3% in lung cancer | Loss of function |
| c.2345_2346insA (p.Tyr782*) | Frameshift | 0.2% in glioblastoma | Loss of function |
| c.3456G>C (p.Gly1152Ala) | Missense | 0.1% in autism | Unknown |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations truncate the protein, abolishing phosphatase activity and tumor suppressor function.
Gain of Function (GOF)
No gain-of-function mutations reported in PTPRT.
Dominant Negative (DN)
No dominant-negative mutations reported in PTPRT.
View complete mutation data：
Gene Ontology (GO)
Pathways
• PI3K-Akt signaling pathway
• MAPK signaling pathway
• Focal adhesion
• Axon guidance
Protein Summary
The PTPRT protein is a receptor-type tyrosine phosphatase with an extracellular region containing fibronectin type III repeats, a transmembrane domain, and two intracellular phosphatase domains. It localizes to the plasma membrane and regulates cell adhesion and signaling by dephosphorylating substrates such as STAT3 and β-catenin. PTPRT is highly expressed in the brain and plays a critical role in neuronal development and synaptic function. Loss of PTPRT function contributes to oncogenesis in several cancer types.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PTPRT Knockout HEK293 Cell Line | EDJ-KQ2663 | Human | 11122 | Details Get a Quote |
| PTPRT Knockout HeLa Cell Line | EDJ-KQ55576 | Human | 11122 | Details Get a Quote |
| PTPRT Knockout A-549 Cell Line | EDJ-KQ64072 | Human | 11122 | Details Get a Quote |
| PTPRT Knockout HCT 116 Cell Line | EDJ-KQ72522 | Human | 11122 | Details Get a Quote |
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