PTCH2

PTCH2 is 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.

Patched 2

Plays a role in the control of cellular growth (PubMed:18285427).
May have a role in epidermal development. May act as a receptor for Sonic hedgehog (SHH).

Cell fate determinationIEA:Ensembl
Epidermal cell fate specificationIEA:Ensembl
Hair cycleIEA:Ensembl
Negative regulation of smoothened signaling pathwayManual Assertion Based On ExperimentTAS:BHF-UCL
Positive regulation of epidermal cell differentiationIEA:Ensembl
Regulation of cell growthManual Assertion Based On ExperimentIMP:UniProtKB
Skin developmentIEA:Ensembl
Smoothened signaling pathwayManual Assertion Based On ExperimentIBA:GO_Central

Membrane

Medulloblastoma (MDB):
Malignant, invasive embryonal tumor of the cerebellum with a preferential manifestation in children.
Basal cell carcinoma (BCC):
A common malignant skin neoplasm that typically appears on hair-bearing skin, most commonly on sun-exposed areas. BCC is slow growing and rarely metastasizes, but has potentialities for local invasion and destruction. It usually develops as a flat, firm, pale area that is small, raised, pink or red, translucent, shiny, and waxy, and the area may bleed following minor injury. Tumor size can vary from a few millimeters to several centimeters in diameter.
Basal cell nevus syndrome (BCNS):
An autosomal dominant disease characterized by nevoid basal cell carcinomas and developmental abnormalities such as rib and craniofacial alterations, polydactyly, syndactyly, and spina bifida. In addition, the patients suffer from a multitude of tumors like basal cell carcinomas, fibromas of the ovaries and heart, cysts of the skin, jaws and mesentery, as well as medulloblastomas and meningiomas.

Cytoplasmic: 1-57
Helical: 58-78
Extracellular: 79-392
Helical: 393-413
Cytoplasmic: 414-428
Helical: 429-449
Extracellular: 450-457
Helical: 458-478
Cytoplasmic: 479-501
Helical: 502-522
Extracellular: 523-531
Helical: 532-552
Cytoplasmic: 553-686
Helical: 687-707
Extracellular: 708-963
Helical: 964-984
Cytoplasmic: 985-991
Helical: 992-1012
Extracellular: 1013
Helical: 1014-1034
Cytoplasmic: 1035-1064
Helical: 1065-1085
Extracellular: 1086-1093
Helical: 1094-1114
Cytoplasmic: 1115-1203