PTCH2

PTCH2
Identifiers
Aliases	PTCH2, PTC2, patched 2
External IDs	OMIM: 603673 MGI: 1095405 HomoloGene: 37842 GeneCards: PTCH2
Gene location (Mouse) Chr. Chromosome 4 (mouse) Band 4 D1|4 53.41 cM Start 116,953,272 bp End 116,973,298 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in tibial nerve sural nerve anterior pituitary right uterine tube nucleus accumbens right adrenal gland Brodmann area 9 gastric mucosa right coronary artery left uterine tube Top expressed in ciliary body hair follicle parotid gland molar internal carotid artery external carotid artery ankle subiculum intercostal muscle carotid body More reference expression data BioGPS n/a
Gene ontology Molecular function hedgehog receptor activity hedgehog family protein binding smoothened binding Cellular component membrane integral component of membrane plasma membrane Biological process skin development positive regulation of epidermal cell differentiation hair cycle epidermal cell fate specification cell fate determination negative regulation of smoothened signaling pathway epidermis development signal transduction smoothened signaling pathway regulation of cell growth Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 8643 19207 Ensembl ENSG00000117425 ENSMUSG00000028681 UniProt Q9Y6C5 O35595 RefSeq (mRNA) NM_003738 NM_001166292 NM_008958 NM_001312903 RefSeq (protein) NP_001159764 NP_003729 NP_001299832 NP_032984 Location (UCSC) n/a Chr 4: 116.95 – 116.97 Mb PubMed search
Wikidata
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Patched 2 is a protein that in humans is encoded by the PTCH2 gene.

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.

Clinical significance

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

Further reading

• Fujii K, Ohashi H, Suzuki M, Hatsuse H, Shiohama T, Uchikawa H, Miyashita T (2013). "Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome". Familial Cancer. 12 (4): 611–4. doi:10.1007/s10689-013-9623-1. PMID 23479190. S2CID 12582274.
• Smyth I, Narang MA, Evans T, Heimann C, Nakamura Y, Chenevix-Trench G, Pietsch T, Wicking C, Wainwright BJ (1999). "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. doi:10.1093/hmg/8.2.291. PMID 9931336.
• Zaphiropoulos PG, Undén AB, Rahnama F, Hollingsworth RE, Toftgård R (1999). "PTCH2, a novel human patched gene, undergoing alternative splicing and up-regulated in basal cell carcinomas". Cancer Research. 59 (4): 787–92. PMID 10029063.
• Rahnama F, Toftgård R, Zaphiropoulos PG (2004). "Distinct roles of PTCH2 splice variants in Hedgehog signalling". Biochemical Journal. 378 (Pt 2): 325–34. doi:10.1042/BJ20031200. PMC 1223965. PMID 14613484.
• Evans, D. G.; Farndon, P. A.; Adam, M. P.; Ardinger, H. H.; Pagon, R. A.; Wallace, S. E.; Bean LJH; Stephens, K.; Amemiya, A. (1993). "Nevoid Basal Cell Carcinoma Syndrome". PMID 20301330. {{cite journal}}: Cite journal requires |journal= (help)
• Li TJ, Sun LS, Luo HY, Yuan JW, Gao L, Gu XM, Li XF, Xu LL (2009). "Studies on keratocystic odontogenic tumors". Beijing da Xue Xue Bao. Yi Xue Ban = Journal of Peking University. Health Sciences. 41 (1): 16–20. PMID 19221557.
• Fan Z, Du J, Liu H, Zhang H, Dlugosz AA, Wang CY, Fan M, Shen Y, Wang S (2009). "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. doi:10.1002/ajmg.a.32647. PMID 19208383. S2CID 2328208.
• Carpenter D, Stone DM, Brush J, Ryan A, Armanini M, Frantz G, Rosenthal A, de Sauvage FJ (1998). "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. Bibcode:1998PNAS...9513630C. doi:10.1073/pnas.95.23.13630. PMC 24870. PMID 9811851.
• Villavicencio EH, Walterhouse DO, Iannaccone PM (2000). "The sonic hedgehog-patched-gli pathway in human development and disease". The American Journal of Human Genetics. 67 (5): 1047–54. doi:10.1016/S0002-9297(07)62934-6. PMC 1288546. PMID 11001584.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.