Human Cadherin EGF LAG Seven Pass G-Type Receptor 2 (CELSR2) Protein

Background

CELSR2 encodes Cadherin EGF LAG seven-pass G-type receptor 2, another member of the adhesion GPCR family that functions in the regulation of cell polarity and neuronal migration. CELSR2 is a key component of the Wnt/planar cell polarity (PCP) signaling pathway, coordinating neuronal guidance and proper axon outgrowth during brain development. CELSR2 is predominantly expressed in the developing brain, particularly in regions like the cerebral cortex, where it governs synapse formation and neuronal connectivity. Mutations in CELSR2 have been associated with neurodevelopmental disorders, including autism spectrum disorder (ASD) and intellectual disability, as disruptions in PCP signaling can impair brain structure and function. CELSR2 has also been identified in genome-wide studies as a gene linked to coronary artery disease (CAD) and lipid metabolism, particularly low-density lipoprotein cholesterol (LDL-C) regulation. Beyond its role in development, CELSR2 contributes to tissue regeneration and cancer progression, where it can influence epithelial-mesenchymal transition (EMT) and cell invasion. CELSR2's cadherin and EGF-like domains mediate both cell adhesion and intercellular signaling, making it critical for both normal development and disease states.