PTPRD Gene: Protein Tyrosine Phosphatase Receptor Type D
A key tumor suppressor gene involved in cell growth regulation, neuronal development, and cancer susceptibility.
Gene Information Card
| Symbol | PTPRD |
|---|---|
| Full Name | Protein Tyrosine Phosphatase Receptor Type D |
| Gene Type | Protein coding |
| Chromosomal Location | 9p24.1-p23 (GRCh38) |
| NCBI Gene ID | 5789 ncbi.nlm.nih.gov/gene/5789 |
| Ensembl ID | ENSG00000153707 |
| UniProt ID | P23468 |
| OMIM ID | 601598 |
| HGNC ID | 9668 |
| Aliases | HPTPD, HPTPDELTA, PTPD, RPTPDELTA |
Description
PTPRD encodes a member of the protein tyrosine phosphatase (PTP) family, specifically a receptor-type PTP. The encoded protein contains extracellular immunoglobulin-like and fibronectin type III domains, a transmembrane region, and two cytoplasmic tyrosine phosphatase domains. PTPRD is involved in various cellular processes including cell growth, differentiation, and synaptic plasticity. It functions as a tumor suppressor in several cancer types, and mutations or deletions are frequently observed in glioblastoma, lung cancer, and other malignancies. Additionally, PTPRD has been implicated in neurodevelopmental disorders and addiction susceptibility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Glioblastoma | Loss of function mutations and deletions lead to increased cell proliferation and survival | COSMIC, ClinVar, NCBI |
| Lung cancer (non-small cell) | Inactivating mutations and promoter methylation reduce tumor suppressor activity | COSMIC, ClinVar |
| Neuroblastoma | Copy number loss and reduced expression correlate with poor prognosis | COSMIC, ClinVar |
| Restless legs syndrome | Genetic variants associated with increased risk | OMIM, ClinVar |
| Schizophrenia | Rare copy number variants and SNPs contribute to susceptibility | OMIM, ClinVar |
| Addiction (nicotine dependence) | Polymorphisms in PTPRD associated with smoking behavior | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 4.2 | Low |
| Liver | 1.8 | Low |
| Kidney | 3.5 | Low |
| Testis | 2.9 | Low |
| Spleen | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 8.7 | Moderate expression |
| A549 (lung carcinoma) | 3.1 | Low expression |
| HepG2 (hepatocellular carcinoma) | 1.5 | Very low |
| MCF7 (breast cancer) | 2.2 | Low |
| K562 (leukemia) | 0.8 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Ter) | Nonsense | 0.5% in glioblastoma | Truncated protein, loss of phosphatase activity |
| c.1567_1568del (p.Leu523fs) | Frameshift | 1% in lung cancer | Loss of function |
| c.2345A>G (p.Tyr782Cys) | Missense | 0.2% in various cancers | Reduced catalytic activity |
| Whole gene deletion | Copy number loss | 5-10% in glioblastoma | Haploinsufficiency or complete loss |
Mutation functional classification
Loss of Function (LOF)
Most PTPRD mutations are loss-of-function, including nonsense, frameshift, and splice-site variants that lead to truncated or absent protein, reducing phosphatase activity and tumor suppressor function.
Gain of Function (GOF)
Gain-of-function mutations are rare and not well-documented; no activating mutations have been consistently reported.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by dimerizing with wild-type protein and inhibiting its function, though evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • protein tyrosine phosphatase activity | • transmembrane receptor protein tyrosine phosphatase signaling pathway |
| • cell adhesion | • axon guidance |
| • nervous system development | • negative regulation of cell proliferation |
| • dephosphorylation |
Pathways
• Axon guidance
• Signaling by Receptor Tyrosine Kinases
• MAPK signaling pathway
• p53 signaling pathway (via interaction)
• Cell cycle regulation
Protein Summary
The PTPRD protein is a receptor-type protein tyrosine phosphatase that spans the cell membrane. Its extracellular region contains immunoglobulin-like and fibronectin type III domains, which mediate cell-cell adhesion and ligand binding. The intracellular region has two tandem phosphatase domains, of which the membrane-proximal domain is catalytically active. PTPRD dephosphorylates substrates such as STAT3, p62DOK, and FYN, thereby regulating cell proliferation, survival, and differentiation. It is highly expressed in the brain and plays a role in synaptic plasticity and neuronal development. Loss of PTPRD function contributes to oncogenesis by activating oncogenic signaling pathways.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PTPRD Knockout HEK293 Cell Line | EDJ-KQ5598 | Human | 5789 | Details Get a Quote |
| PTPRD Knockout HeLa Cell Line | EDJ-KQ54271 | Human | 5789 | Details Get a Quote |
| PTPRD Knockout A-549 Cell Line | EDJ-KQ62764 | Human | 5789 | Details Get a Quote |
| PTPRD Knockout HCT 116 Cell Line | EDJ-KQ71233 | Human | 5789 | Details Get a Quote |
