PTCH2 gene

patched 2

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

May have a role in epidermal development. May act as a receptor for Sonic hedgehog (SHH).

From NCBI Gene:

  • Gorlin syndrome
  • Basal cell carcinoma, multiple
  • Medulloblastoma

From UniProt:

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. [MIM:605462]

Medulloblastoma (MDB): Malignant, invasive embryonal tumor of the cerebellum with a preferential manifestation in children. [MIM:155255]

Cytogenetic Location: 1p34.1, which is the short (p) arm of chromosome 1 at position 34.1

Molecular Location: base pairs 44,819,844 to 44,842,944 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1p34.1, which is the short (p) arm of chromosome 1 at position 34.1