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.

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 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
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