Automated description from the Alliance of Genome Resources (Release 7.0.0)
Enables several functions, including G-protein alpha-subunit binding activity; adenylate cyclase inhibitor activity; and myosin binding activity. Involved in several processes, including positive regulation of bone mineralization; positive regulation of protein kinase C signaling; and self proteolysis. Acts upstream of or within several processes, including detection of mechanical stimulus involved in sensory perception of sound; inner ear receptor cell stereocilium organization; and positive regulation of protein kinase A signaling. Located in several cellular components, including periciliary membrane compartment; photoreceptor connecting cilium; and stereocilia ankle link. Part of USH2 complex and stereocilia ankle link complex. Is active in stereocilium. Is expressed in several structures, including brain; eye; neural ectoderm; reproductive system; and spinal cord. Used to study Usher syndrome type 2C. Human ortholog(s) of this gene implicated in Usher syndrome type 2C and familial febrile seizures 4. Orthologous to human ADGRV1 (adhesion G protein-coupled receptor V1).
Analysis Tools
Text File
Excel File