Enables phosphatidylinositol binding activity. Involved in several processes, including cilium assembly; limb development; and regulation of smoothened signaling pathway. Acts upstream of or within several processes, including cilium assembly; hair follicle morphogenesis; and nervous system developm
ent. Located in centriole; ciliary transition zone; and cytoplasm. Is expressed in central nervous system and retina. Human ortholog(s) of this gene implicated in asphyxiating thoracic dystrophy and orofaciodigital syndrome XVII. Orthologous to human INTU (inturned planar cell polarity protein). [provided by Alliance of Genome Resources, Jul 2025]
3
40585559
40659206
Mouse
158
symbol , old_gene_name , PhenoGen , name , description
Predicted to enable chromatin DNA binding activity. Acts upstream of or within several processes, including blood vessel endothelial cell migration involved in intussusceptive angiogenesis; regulation of extracellular matrix organization; and skeletal muscle cel
l differentiation. Located in nuclear envelope. Is expressed in several structures, including allantois; foregut diverticulum endoderm; lateral plate mesoderm; neural plate; and primitive streak. Human ortholog(s) of this gene implicated in Buschke-Ollendorff syndrome. Orthologous to human LEMD3 (LEM domain containing 3). [provided by Alliance of Genome Resources, Jul 2025]