PTPRB Gene - Protein Tyrosine Phosphatase Receptor Type B

PTPRB encodes a member of the protein tyrosine phosphatase (PTP) family, specifically a receptor-type PTP. The protein is a transmembrane receptor that contains an extracellular region with fibronectin type III repeats and a cytoplasmic region with two tandem catalytic domains. It is predominantly expressed in endothelial cells and plays a critical role in vascular development, angiogenesis, and regulation of endothelial cell contacts. PTPRB dephosphorylates tyrosine residues on target proteins, including TEK/Tie2, and modulates signaling pathways involved in blood vessel formation and maintenance.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• Angiogenesis (Reactome: R-HSA-194315)

• Signaling by Receptor Tyrosine Kinases (Reactome: R-HSA-9006934)

• VEGF signaling pathway (KEGG: hsa04370)

PTPRB is a 1998-amino acid transmembrane receptor protein tyrosine phosphatase. It contains an N-terminal signal peptide, a large extracellular domain with 17 fibronectin type III repeats, a single transmembrane domain, and two cytoplasmic phosphatase domains (D1 and D2). The D1 domain is catalytically active, while D2 is regulatory. PTPRB is highly expressed in endothelial cells and dephosphorylates TEK/Tie2, VE-cadherin, and other substrates to regulate vascular integrity and angiogenesis. Mutations in PTPRB are associated with hereditary hemorrhagic telangiectasia and vascular malformations.