PTPRA: Protein Tyrosine Phosphatase Receptor Type A
A key regulator of cell signaling, growth, and differentiation, implicated in cancer and developmental disorders.
Gene Information Card
| Symbol | PTPRA |
|---|---|
| Full Name | Protein Tyrosine Phosphatase Receptor Type A |
| Gene Type | protein-coding |
| Chromosomal Location | 20p13 |
| NCBI Gene ID | 5786 ncbi.nlm.nih.gov/gene/5786 |
| Ensembl ID | ENSG00000132670 |
| UniProt ID | P18433 |
| OMIM ID | 176884 |
| HGNC ID | 9664 |
| Aliases | RPTPA, PTPA, LCA, HPTPA |
Description
PTPRA encodes a member of the protein tyrosine phosphatase (PTP) family, specifically a receptor-type PTP. The encoded protein is a transmembrane phosphatase that regulates cell signaling by dephosphorylating tyrosine residues on target proteins, including SRC family kinases. It plays roles in cell adhesion, migration, proliferation, and differentiation. Alternative splicing results in multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of PTPRA expression or activity alters SRC kinase signaling, promoting oncogenic transformation and metastasis. | COSMIC, ClinVar |
| Developmental disorders | Mutations in PTPRA may disrupt neuronal development and synaptic function, though specific associations are under investigation. | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.0 | High expression |
| HeLa | 10.5 | Moderate expression |
| K562 | 7.8 | Low expression |
| MCF7 | 11.2 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.1% | Alters phosphatase activity; potential loss-of-function |
| c.567G>A (p.Gly189Arg) | Missense | <0.1% | Impaired substrate binding; reported in cancer samples (COSMIC) |
| c.890_891insA | Frameshift | <0.1% | Truncated protein; loss-of-function |
Mutation functional classification
Loss of Function (LOF)
Missense and frameshift mutations that reduce or abolish phosphatase activity, leading to dysregulated SRC signaling.
Gain of Function (GOF)
Not well documented; some variants may increase activity but evidence is limited.
Dominant Negative (DN)
Not reported for PTPRA.
View complete mutation data：
Gene Ontology (GO)
Pathways
• SRC family kinase signaling (Reactome: R-HSA-177929)
• Signaling by Receptor Tyrosine Kinases (Reactome: R-HSA-9006934)
• Integrin signaling (Reactome: R-HSA-354192)
Protein Summary
PTPRA (RPTPα) is a transmembrane receptor-type protein tyrosine phosphatase. It consists of a large extracellular domain, a single transmembrane segment, and two cytoplasmic phosphatase domains. The protein primarily dephosphorylates and activates SRC family kinases (e.g., SRC, FYN), thereby regulating cell adhesion, migration, and proliferation. It is widely expressed, with highest levels in brain and testis. Dysregulation of PTPRA is implicated in cancer and potentially neurological disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PTPRA Knockout HEK293 Cell Line | EDJ-KQ5596 | Human | 5786 | Details Get a Quote |
| PTPRA Knockout HeLa Cell Line | EDJ-KQ27621 | Human | 5786 | Details Get a Quote |
| PTPRA Knockout A-549 Cell Line | EDJ-KQ28872 | Human | 5786 | Details Get a Quote |
| PTPRA Knockout HCT 116 Cell Line | EDJ-KQ28873 | Human | 5786 | Details Get a Quote |
