VANGL2: Involved in the control of early morphogenesis and patterning of both axial midline structures and the development of neural plate. Plays a role in the regulation of planar cell polarity, particularly in the orientation of stereociliary bundles in the cochlea. Required for polarization and movement of myocardializing cells in the outflow tract and seems to act via RHOA signaling to regulate this process. Interacts through its C-terminal region with the N- terminal half of DVL1, DVL2 and DVL3. The PDZ domain of DVL1, DVL2 and DVL3 is required for the interaction. Also interacts with the PDZ domains of MAGI3, SCRIB/SCRB1 and FZD3. Belongs to the Vang family.
Protein type: Membrane protein, multi-pass; Adaptor/scaffold; Membrane protein, integral
Chromosomal Location of Human Ortholog: 1q22-q23
Cellular Component: basolateral plasma membrane; apical plasma membrane; stress fiber; plasma membrane; integral to membrane; intercellular junction; ER to Golgi transport vesicle; lateral plasma membrane
Biological Process: positive regulation of JNK activity; convergent extension involved in axis elongation; wound healing; convergent extension involved in neural plate elongation; somatic stem cell maintenance; regulation of Wnt receptor signaling pathway; digestive tract morphogenesis; glomerulus development; Rho protein signal transduction; establishment and/or maintenance of epithelial cell polarity; anterior/posterior pattern formation; inner ear receptor stereocilium organization and biogenesis; apical protein localization; hair follicle development; sensory cilium biogenesis; regulation of actin cytoskeleton organization and biogenesis; establishment of body hair orientation; neural tube closure; somatic stem cell division; establishment of planar polarity; heart looping
Disease: Neural Tube Defects
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