PTCH2 explained

Patched 2 is a protein that in humans is encoded by the PTCH2 gene.^[1]

Function

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.^[1]

Clinical significance

Alterations in this gene have been associated with nevoid basal cell carcinoma syndrome, basal cell carcinoma, medulloblastoma, and susceptibility to congenital macrostomia.^[1]

References

Further reading

• Fujii K, Ohashi H, Suzuki M, Hatsuse H, Shiohama T, Uchikawa H, Miyashita T . Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome . Familial Cancer . 12 . 4 . 611–4 . 2013 . 23479190 . 10.1007/s10689-013-9623-1 . 12582274 .
• Smyth I, Narang MA, Evans T, Heimann C, Nakamura Y, Chenevix-Trench G, Pietsch T, Wicking C, Wainwright BJ . Isolation and characterization of human patched 2 (PTCH2), a putative tumour suppressor gene inbasal cell carcinoma and medulloblastoma on chromosome 1p32 . Human Molecular Genetics . 8 . 2 . 291–7 . 1999 . 9931336 . 10.1093/hmg/8.2.291.
• Zaphiropoulos PG, Undén AB, Rahnama F, Hollingsworth RE, Toftgård R . PTCH2, a novel human patched gene, undergoing alternative splicing and up-regulated in basal cell carcinomas . Cancer Research . 59 . 4 . 787–92 . 1999 . 10029063 .
• Rahnama F, Toftgård R, Zaphiropoulos PG . Distinct roles of PTCH2 splice variants in Hedgehog signalling . Biochemical Journal . 378 . Pt 2 . 325–34 . 2004 . 14613484 . 1223965 . 10.1042/BJ20031200 .
• Nevoid Basal Cell Carcinoma Syndrome . 1993 . 20301330 . Evans . D. G. . Farndon . P. A. . Adam . M. P. . Ardinger . H. H. . Pagon . R. A. . Wallace . S. E. . Bean LJH . Stephens . K. . Amemiya . A. . GeneReviews.
• Li TJ, Sun LS, Luo HY, Yuan JW, Gao L, Gu XM, Li XF, Xu LL . Studies on keratocystic odontogenic tumors . Beijing da Xue Xue Bao. Yi Xue Ban = Journal of Peking University. Health Sciences . 41 . 1 . 16–20 . 2009 . 19221557 .
• Fan Z, Du J, Liu H, Zhang H, Dlugosz AA, Wang CY, Fan M, Shen Y, Wang S . A susceptibility locus on 1p32-1p34 for congenital macrostomia in a Chinese family and identification of a novel PTCH2 mutation . American Journal of Medical Genetics Part A . 149A . 3 . 521–4 . 2009 . 19208383 . 10.1002/ajmg.a.32647 . 2328208 .
• Carpenter D, Stone DM, Brush J, Ryan A, Armanini M, Frantz G, Rosenthal A, de Sauvage FJ . Characterization of two patched receptors for the vertebrate hedgehog protein family . Proceedings of the National Academy of Sciences of the United States of America . 95 . 23 . 13630–4 . 1998 . 9811851 . 24870 . 10.1073/pnas.95.23.13630. 1998PNAS...9513630C . free .
• Villavicencio EH, Walterhouse DO, Iannaccone PM . The sonic hedgehog-patched-gli pathway in human development and disease . The American Journal of Human Genetics . 67 . 5 . 1047–54 . 2000 . 11001584 . 1288546 . 10.1016/S0002-9297(07)62934-6 .

Notes and References

1. Web site: Entrez Gene: Patched 2 .