PTPRR: Protein Tyrosine Phosphatase Receptor Type R
A key regulator of MAPK signaling and neuronal differentiation
Gene Information Card
| Symbol | PTPRR |
|---|---|
| Full Name | Protein Tyrosine Phosphatase Receptor Type R |
| Gene Type | protein-coding |
| Chromosomal Location | 12q15 |
| NCBI Gene ID | 5801 ncbi.nlm.nih.gov/gene/5801 |
| Ensembl ID | ENSG00000153234 |
| UniProt ID | Q15256 |
| OMIM ID | 602853 |
| HGNC ID | 9670 |
| Aliases | PTP-SL, PTPBR7, PTPRQ, PTPRR-1, PTPRR-2 |
Description
PTPRR (Protein Tyrosine Phosphatase Receptor Type R) encodes a member of the protein tyrosine phosphatase (PTP) family. The protein contains a single catalytic domain and is involved in the negative regulation of MAPK signaling by dephosphorylating and inactivating ERK1/2. It is predominantly expressed in the brain and plays a role in neuronal differentiation and synaptic plasticity. Alternative splicing results in multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Dysregulation of MAPK signaling; PTPRR may act as a tumor suppressor | COSMIC; literature |
| Neurodevelopmental disorders | Altered neuronal differentiation and ERK signaling | OMIM; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Testis | 3.2 | Medium |
| Adrenal gland | 2.1 | Low |
| Heart | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 8.4 | Neuronal cell line |
| HEK293 | 1.2 | Low expression |
| HeLa | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | 0.01% | Reduced phosphatase activity |
| c.567_569del | In-frame deletion | 0.005% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and deletion variants that impair catalytic activity or protein stability.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • protein tyrosine phosphatase activity | • MAP kinase phosphatase activity |
| • dephosphorylation | • negative regulation of MAPK cascade |
| • neuron projection development |
Pathways
• MAPK signaling pathway
• ErbB signaling pathway
• Neurotrophin signaling pathway
Protein Summary
PTPRR is a receptor-type protein tyrosine phosphatase that specifically dephosphorylates and inactivates ERK1/2, thereby negatively regulating MAPK signaling. It is highly expressed in the brain and is essential for neuronal differentiation and synaptic function. The protein contains a transmembrane domain and a single cytoplasmic phosphatase domain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PTPRR Knockout HEK293 Cell Line | EDJ-KQ742 | Human | 5801 | Details Get a Quote |
| PTPRR Knockout HeLa Cell Line | EDJ-KQ19380 | Human | 5801 | Details Get a Quote |
| PTPRR Knockout A-549 Cell Line | EDJ-KQ62770 | Human | 5801 | Details Get a Quote |
| PTPRR Knockout HCT 116 Cell Line | EDJ-KQ71237 | Human | 5801 | Details Get a Quote |
