Location [1]
Protein [2]
Protein patched homolog 2
Synonyms [1]

Patched 2 (PTCH2) is a gene that encodes a protein that functions as a transmembrane receptor. The protein is also a tumor suppressor in the hedgehog signaling pathway. Missense mutations, nonsense mutations, silent mutations, and frameshift deletions and insertions are observed in cancers such as endometrial cancer, intestinal cancer, and skin cancer.

PTCH2 is altered in 2.00% of all cancers with conventional glioblastoma multiforme, glioblastoma, basal cell carcinoma, diffuse astrocytoma, and endometrial endometrioid adenocarcinoma having the greatest prevalence of alterations [3].

PTCH2 GENIE Cases - Top Diseases

The most common alterations in PTCH2 are PTCH2 Mutation (1.89%), PTCH2 A672T (0.08%), PTCH2 E854K (0.18%), PTCH2 P218L (0.18%), and PTCH2 R804C (0.08%) [3].

PTCH2 GENIE Cases - Top Alterations


1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.