Predicted to contribute to GTPase activator activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II; positive regulation of TORC1 signaling; and positive regulation of transforming growth factor beta receptor signaling pathway. Predicted to be located in several cellular components, including cilium; lysosomal membrane; and microtubule cytoskeleton. Predicted to be active in cytosol. Is expressed in several structures, including body wall musculature; excretory cell; intestine; spermatheca; and vulva. Used to study Birt-Hogg-Dube syndrome. Human ortholog(s) of this gene implicated in Birt-Hogg-Dube syndrome; colorectal cancer; primary spontaneous pneumothorax; and renal cell carcinoma. Orthologous to human FLCN (folliculin).
WB Description
F22D3.2 encodes an ortholog of human folliculin (OMIM:607273, mutated inBirt-Hogg-Dube syndrome).