PTPRB

Description

The PTPRB (protein tyrosine phosphatase receptor type B) is a protein-coding gene located on chromosome 12.

PTPRB, also known as VE-PTP, is an enzyme specifically expressed in endothelial cells and is encoded by the PTPRB gene. It is a member of the classical protein tyrosine phosphatase (PTP) family. The deletion of the PTPRB gene in mouse models resulted in embryonic lethality, highlighting its importance for vasculogenesis and blood vessel development. PTPRB participates in adherens junctions complexes and regulates vascular permeability. Soni et al. demonstrated that tyrosine phosphorylation of VE-PTP via Pyk2 kinase downstream of STIM1-induced calcium entry mediates disassembly of the endothelial adherens junctions. PTPRB contains an extracellular domain composed of multiple fibronectin type_III repeats, a single transmembrane segment, and one intracytoplasmic catalytic domain, classifying it as an R3 receptor subtype PTP. The extracellular region interacts with the angiopoietin receptor Tie-2 and the adhesion protein VE-cadherin. PTPRB also interacts with Grb2 and plakoglobin through its cytoplasmic domain. Dysregulation of PTPRB is associated with the development of various tumors.

PTPRB plays a crucial role in blood vessel remodeling and angiogenesis. While not essential for the initial formation of blood vessels, it is critical for their maintenance and remodeling. PTPRB can induce dephosphorylation of TEK/TIE2, CDH5/VE-cadherin, and KDR/VEGFR-2. It regulates angiopoietin-TIE2 signaling in endothelial cells, acting as a negative regulator of TIE2. PTPRB controls TIE2-driven endothelial cell proliferation, influencing blood vessel remodeling during embryonic development and determining blood vessel size during perinatal growth. PTPRB is essential for maintaining endothelial cell contact integrity and the adhesive function of VE-cadherin in endothelial cells. This requires the presence of plakoglobin.

PTPRB is also known as HPTP-BETA, HPTPB, PTPB, R-PTP-BETA, VEPTP.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing