Patched Homolog 2 (PTCH2)

PTCH2 encodes a transmembrane receptor of the patched gene family. The encoded protein may function as a tumor suppressor in the hedgehog signaling pathway. Alterations in this gene have been associated with nevoid basal cell carcinoma syndrome, basal cell carcinoma, medulloblastoma, and susceptibility to congenital macrostomia. Alternatively spliced transcript variants have been described. The mouse gene encodes a protein with 56% identity to Patched-1. It diverges from Patched-1 in the hydrophilic region between transmembrane domains 6 and 7 and in a region of the intracellular C terminus.The PTCH2 gene encodes a 1,203-amino acid putative transmembrane protein that is highly homologous to the PTCH product.PTCH2 gene contains 22 coding exons and spans approximately 15 kb of genomic DNA.