Aliases for PTCH2 Gene
External Ids for PTCH2 Gene
Previous GeneCards Identifiers for PTCH2 Gene
This gene 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.[provided by RefSeq, Oct 2009]
GeneCards Summary for PTCH2 Gene
PTCH2 (Patched 2) is a Protein Coding gene. Diseases associated with PTCH2 include Basal Cell Nevus Syndrome and Medulloblastoma. Among its related pathways are ERK Signaling and Presynaptic function of Kainate receptors. GO annotations related to this gene include hedgehog receptor activity and hedgehog family protein binding. An important paralog of this gene is NPC1L1.
UniProtKB/Swiss-Prot for PTCH2 Gene
May have a role in epidermal development. May act as a receptor for Sonic hedgehog (SHH).