PTCH2

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.

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• {{cite journal |vauthors=Fujii K, Ohashi H, Suzuki M, Hatsuse H, Shiohama T, Uchikawa H, Miyashita T | title = Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome | journal = Familial Cancer | volume = 12 | issue = 4 | pages = 611–4 | year = 2013 | pmid = 23479190 | doi = 10.1007/s10689-013-9623-1 | s2cid = 12582274 }}
• {{cite journal |vauthors=Smyth I, Narang MA, Evans T, Heimann C, Nakamura Y, Chenevix-Trench G, Pietsch T, Wicking C, Wainwright BJ | title = Isolation and characterization of human patched 2 (PTCH2), a putative tumour suppressor gene inbasal cell carcinoma and medulloblastoma on chromosome 1p32 | journal = Human Molecular Genetics | volume = 8 | issue = 2 | pages = 291–7 | year = 1999 | pmid = 9931336 | doi=10.1093/hmg/8.2.291| doi-access = }}
• {{cite journal |vauthors=Zaphiropoulos PG, Undén AB, Rahnama F, Hollingsworth RE, Toftgård R | title = PTCH2, a novel human patched gene, undergoing alternative splicing and up-regulated in basal cell carcinomas | journal = Cancer Research | volume = 59 | issue = 4 | pages = 787–92 | year = 1999 | pmid = 10029063 }}
• {{cite journal |vauthors=Rahnama F, Toftgård R, Zaphiropoulos PG | title = Distinct roles of PTCH2 splice variants in Hedgehog signalling | journal = Biochemical Journal | volume = 378 | issue = Pt 2 | pages = 325–34 | year = 2004 | pmid = 14613484 | pmc = 1223965 | doi = 10.1042/BJ20031200 }}
• {{cite journal | title = Nevoid Basal Cell Carcinoma Syndrome | year = 1993 | pmid = 20301330 | last1 = Evans | first1 = D. G. | last2 = Farndon | first2 = P. A. | last3 = Adam | first3 = M. P. | last4 = Ardinger | first4 = H. H. | last5 = Pagon | first5 = R. A. | last6 = Wallace | first6 = S. E. | author7 = Bean LJH | last8 = Stephens | first8 = K. | last9 = Amemiya | first9 = A. |journal=GeneReviews}}
• {{cite journal |vauthors=Li TJ, Sun LS, Luo HY, Yuan JW, Gao L, Gu XM, Li XF, Xu LL | title = Studies on keratocystic odontogenic tumors | journal = Beijing da Xue Xue Bao. Yi Xue Ban = Journal of Peking University. Health Sciences | volume = 41 | issue = 1 | pages = 16–20 | year = 2009 | pmid = 19221557 }}
• {{cite journal |vauthors=Fan Z, Du J, Liu H, Zhang H, Dlugosz AA, Wang CY, Fan M, Shen Y, Wang S | title = A susceptibility locus on 1p32-1p34 for congenital macrostomia in a Chinese family and identification of a novel PTCH2 mutation | journal = American Journal of Medical Genetics Part A | volume = 149A | issue = 3 | pages = 521–4 | year = 2009 | pmid = 19208383 | doi = 10.1002/ajmg.a.32647 | s2cid = 2328208 | hdl = 2027.42/61897 | hdl-access = free }}
• {{cite journal |vauthors=Carpenter D, Stone DM, Brush J, Ryan A, Armanini M, Frantz G, Rosenthal A, de Sauvage FJ | title = Characterization of two patched receptors for the vertebrate hedgehog protein family | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 95 | issue = 23 | pages = 13630–4 | year = 1998 | pmid = 9811851 | pmc = 24870 | doi=10.1073/pnas.95.23.13630| bibcode = 1998PNAS...9513630C | doi-access = free }}
• {{cite journal |vauthors=Villavicencio EH, Walterhouse DO, Iannaccone PM | title = The sonic hedgehog-patched-gli pathway in human development and disease | journal = The American Journal of Human Genetics | volume = 67 | issue = 5 | pages = 1047–54 | year = 2000 | pmid = 11001584 | pmc = 1288546 | doi = 10.1016/S0002-9297(07)62934-6 }}

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