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Gene Review

PTCH2  -  patched 2

Homo sapiens

Synonyms: PTC2, Protein patched homolog 2, UNQ560/PRO1121/PRO57079
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Disease relevance of PTCH2

  • Isolation and characterization of human patched 2 (PTCH2), a putative tumour suppressor gene inbasal cell carcinoma and medulloblastoma on chromosome 1p32 [1].
  • PTCH2, a novel human patched gene, undergoing alternative splicing and up-regulated in basal cell carcinomas [2].
  • Mutations in the PTCH play also a major role in BCC development, being responsible for hereditary BCCs in Gorlin's syndrome, sporadic BCC, and BCCs isolated from xeroderma pigmentosum, although with a lower incidence of "UV signature". Smoothened-activating mutations and PTCH2 mutations are also involved in BCC formation [3].
  • RESULTS: In neurofibromas, CD57-positive tumour cells with delicate elongated processes were positive for the receptor PTCH2 [4].
  • RESULTS: Ptc1 and Ptc2 were present, whereas Shh was down-regulated in pituitary adenomas and completely absent in Cushing tumors [5].

High impact information on PTCH2


Biological context of PTCH2


Anatomical context of PTCH2


Associations of PTCH2 with chemical compounds


Other interactions of PTCH2


Analytical, diagnostic and therapeutic context of PTCH2


  1. Isolation and characterization of human patched 2 (PTCH2), a putative tumour suppressor gene inbasal cell carcinoma and medulloblastoma on chromosome 1p32. Smyth, I., Narang, M.A., Evans, T., Heimann, C., Nakamura, Y., Chenevix-Trench, G., Pietsch, T., Wicking, C., Wainwright, B.J. Hum. Mol. Genet. (1999) [Pubmed]
  2. PTCH2, a novel human patched gene, undergoing alternative splicing and up-regulated in basal cell carcinomas. Zaphiropoulos, P.G., Undén, A.B., Rahnama, F., Hollingsworth, R.E., Toftgård, R. Cancer Res. (1999) [Pubmed]
  3. Carcinogenesis of basal cell carcinomas: genetics and molecular mechanisms. Lacour, J.P. Br. J. Dermatol. (2002) [Pubmed]
  4. A possible paracrine hedgehog signalling pathway in neurofibromas from patients with neurofibromatosis type 1. Endo, H., Utani, A., Matsumoto, F., Kuroki, T., Yoshimoto, S., Ichinose, M., Shinkai, H. Br. J. Dermatol. (2003) [Pubmed]
  5. Expression and function of sonic hedgehog pathway components in pituitary adenomas: evidence for a direct role in hormone secretion and cell proliferation. Vila, G., Theodoropoulou, M., Stalla, J., Tonn, J.C., Losa, M., Renner, U., Stalla, G.K., Paez-Pereda, M. J. Clin. Endocrinol. Metab. (2005) [Pubmed]
  6. Loss of function effect of RET mutations causing Hirschsprung disease. Pasini, B., Borrello, M.G., Greco, A., Bongarzone, I., Luo, Y., Mondellini, P., Alberti, L., Miranda, C., Arighi, E., Bocciardi, R. Nat. Genet. (1995) [Pubmed]
  7. Characterization of two patched receptors for the vertebrate hedgehog protein family. Carpenter, D., Stone, D.M., Brush, J., Ryan, A., Armanini, M., Frantz, G., Rosenthal, A., de Sauvage, F.J. Proc. Natl. Acad. Sci. U.S.A. (1998) [Pubmed]
  8. Ptc1 and Ptc2 transcripts provide distinct readouts of Hedgehog signaling activity during chick embryogenesis. Pearse, R.V., Vogan, K.J., Tabin, C.J. Dev. Biol. (2001) [Pubmed]
  9. Isoform-specific phosphorylation of fission yeast type 2C protein phosphatase. Kobayashi, T., Sadaie, M., Ohnishi, M., Wang, H., Ikeda, S., Hanada, M., Yanagawa, Y., Nakajima, T., Tamura, S. Biochem. Biophys. Res. Commun. (1998) [Pubmed]
  10. Familial adenomatous polyposis-associated thyroid cancer: a clinical, pathological, and molecular genetics study. Soravia, C., Sugg, S.L., Berk, T., Mitri, A., Cheng, H., Gallinger, S., Cohen, Z., Asa, S.L., Bapat, B.V. Am. J. Pathol. (1999) [Pubmed]
  11. Low prevalence of RET rearrangements (RET/PTC1, RET/PTC2, RET/PTC3, and ELKS-RET) in sporadic papillary thyroid carcinomas in Taiwan Chinese. Liu, R.T., Chou, F.F., Wang, C.H., Lin, C.L., Chao, F.P., Chung, J.C., Huang, C.C., Wang, P.W., Cheng, J.T. Thyroid (2005) [Pubmed]
  12. ret/PTC-1, -2, and -3 oncogene rearrangements in human thyroid carcinomas: implications for metastatic potential? Sugg, S.L., Zheng, L., Rosen, I.B., Freeman, J.L., Ezzat, S., Asa, S.L. J. Clin. Endocrinol. Metab. (1996) [Pubmed]
  13. Distinct roles of PTCH2 splice variants in Hedgehog signalling. Rahnama, F., Toftgård, R., Zaphiropoulos, P.G. Biochem. J. (2004) [Pubmed]
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