PTPRZ1 Gene - Protein Tyrosine Phosphatase Receptor Type Z1
A key regulator in neural development, glial biology, and cancer signaling
Gene Information Card
| Symbol | PTPRZ1 |
|---|---|
| Full Name | Protein Tyrosine Phosphatase Receptor Type Z1 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q31.3 |
| NCBI Gene ID | 5803 ncbi.nlm.nih.gov/gene/5803 |
| Ensembl ID | ENSG00000106278 |
| UniProt ID | P23471 |
| OMIM ID | 176891 |
| HGNC ID | 9681 |
| Aliases | RPTPβ, PTPRZ, PTP18, phosphacan, HPTPζ |
Description
PTPRZ1 encodes a member of the receptor-type protein tyrosine phosphatase family. The gene produces several isoforms through alternative splicing, including a transmembrane receptor (RPTPβ) and a secreted chondroitin sulfate proteoglycan (phosphacan). PTPRZ1 is predominantly expressed in the central nervous system, where it regulates cell adhesion, neurite outgrowth, and glial cell migration. It is also implicated in cancer, particularly glioblastoma, through aberrant signaling and gene fusions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Glioblastoma | PTPRZ1-MET fusion (ZM) drives oncogenic signaling via MET kinase activation | COSMIC, ClinVar |
| Glioma | Overexpression and altered splicing promote tumor cell proliferation and invasion | NCBI, PubMed |
| Schizophrenia | Genetic variants in PTPRZ1 associated with risk in GWAS studies | OMIM, ClinVar |
| Multiple sclerosis | PTPRZ1 polymorphisms linked to disease susceptibility | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 28.5 | High |
| Spinal cord | 12.3 | Medium |
| Adipose tissue | 0.8 | Low |
| Liver | 0.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| U-87 MG (glioblastoma) | 35.1 | High expression |
| SH-SY5Y (neuroblastoma) | 18.7 | Moderate expression |
| HEK293 (embryonic kidney) | 0.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| PTPRZ1-MET fusion | Gene fusion | Rare in glioblastoma (2-5%) | Constitutive MET activation, oncogenic |
| c.2740C>T (p.Arg914Cys) | Missense | <0.1% (gnomAD) | Unknown functional effect |
| c.1234G>A (p.Gly412Arg) | Missense | <0.01% | Reported in glioma |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; rare truncating variants may reduce phosphatase activity.
Gain of Function (GOF)
PTPRZ1-MET fusion results in gain-of-function via MET kinase domain activation.
Dominant Negative (DN)
Not reported for PTPRZ1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• REACTOME: Signaling by Receptor Tyrosine Kinases (R-HSA-9006934)
• REACTOME: DCC mediated attractive signaling (R-HSA-418885)
• KEGG: Proteoglycans in cancer (hsa05205)
Protein Summary
PTPRZ1 encodes a transmembrane protein tyrosine phosphatase (RPTPβ) and a secreted isoform (phosphacan). The protein contains an extracellular carbonic anhydrase-like domain, a fibronectin type III domain, and a cytoplasmic phosphatase domain. It dephosphorylates substrates such as β-catenin and p190RhoGAP, modulating cell adhesion and migration. In the CNS, it binds to contactin and tenascin-R, influencing neurite growth. The secreted phosphacan isoform acts as a proteoglycan in the extracellular matrix, regulating neuronal plasticity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PTPRZ1 Knockout HEK293 Cell Line | EDJ-KQ5605 | Human | 5803 | Details Get a Quote |
| PTPRZ1 Knockout HeLa Cell Line | EDJ-KQ54278 | Human | 5803 | Details Get a Quote |
| PTPRZ1 Knockout A-549 Cell Line | EDJ-KQ62771 | Human | 5803 | Details Get a Quote |
| PTPRZ1 Knockout HCT 116 Cell Line | EDJ-KQ71238 | Human | 5803 | Details Get a Quote |
