PTPRU: Protein Tyrosine Phosphatase Receptor Type U
A comprehensive resource on PTPRU gene, including genomic information, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | PTPRU |
|---|---|
| Full Name | Protein Tyrosine Phosphatase Receptor Type U |
| Gene Type | protein-coding |
| Chromosomal Location | 1p35.3 |
| NCBI Gene ID | 10076 ncbi.nlm.nih.gov/gene/10076 |
| Ensembl ID | ENSG00000143379 |
| UniProt ID | Q92729 |
| OMIM ID | 602510 |
| HGNC ID | 9679 |
| Aliases | PTP-RO, PTPRO, PTP-U2, RPTP-U |
Description
PTPRU (Protein Tyrosine Phosphatase Receptor Type U) is a member of the protein tyrosine phosphatase (PTP) family. PTPs are signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. PTPRU is a receptor-type phosphatase that may play a role in cell adhesion and signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | Altered expression and mutations in PTPRU may contribute to tumorigenesis through dysregulation of tyrosine phosphorylation pathways. | COSMIC, ClinVar |
| Breast Cancer | PTPRU expression changes have been observed in breast cancer, potentially affecting cell proliferation and migration. | COSMIC, NCBI |
| Lung Cancer | Somatic mutations in PTPRU have been identified in lung cancer samples, suggesting a role in cancer progression. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 15.2 | Medium |
| Lung | 9.7 | Low |
| Colon | 18.4 | Medium |
| Breast | 7.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.2 | Embryonic kidney cells |
| HeLa | 11.5 | Cervical cancer cells |
| MCF7 | 9.8 | Breast cancer cells |
| A549 | 8.1 | Lung cancer cells |
| HCT 116 | 16.3 | Colorectal cancer cells |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function |
| c.567G>A (p.Trp189*) | Nonsense | <0.1% | Loss of function |
| c.890A>G (p.Asn297Ser) | Missense | 0.2% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to premature stop codons are predicted to cause loss of function.
Gain of Function (GOF)
No gain-of-function mutations have been reported.
Dominant Negative (DN)
No dominant-negative mutations have been reported.
View complete mutation data:
Gene Ontology (GO)
| • protein tyrosine phosphatase activity (GO:0004725) | • plasma membrane (GO:0005886) |
| • dephosphorylation (GO:0016311) | • signal transduction (GO:0007165) |
| • cell adhesion (GO:0007155) |
Pathways
• REACT:111045 - Signaling by Receptor Tyrosine Kinases
• REACT:111102 - PTPs regulate RTK signaling
Protein Summary
PTPRU is a receptor-type protein tyrosine phosphatase that localizes to the plasma membrane. It contains an extracellular region, a transmembrane domain, and two cytoplasmic phosphatase domains. The protein is involved in dephosphorylating tyrosine residues on target proteins, thereby modulating signaling pathways related to cell growth, differentiation, and adhesion. PTPRU is expressed in various tissues and is implicated in several cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PTPRU Knockout HEK293 Cell Line | EDJ-KQ6885 | Human | 10076 | Details Get a Quote |
| PTPRU Knockout A-549 Cell Line | EDJ-KQ31485 | Human | 10076 | Details Get a Quote |
| PTPRU Knockout HCT 116 Cell Line | EDJ-KQ31486 | Human | 10076 | Details Get a Quote |
| PTPRU Knockout HeLa Cell Line | EDJ-KQ31487 | Human | 10076 | Details Get a Quote |