PTCH2

PTCH2
Identifiers
Aliases	PTCH2, PTC2, patched 2
External IDs	OMIM: 603673; MGI: 1095405; HomoloGene: 37842; GeneCards: PTCH2; OMA:PTCH2 - orthologs
Gene location (Mouse)
Chr.	Chromosome 4 (mouse)
End	116,973,298 bp
RNA expression pattern
	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
	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
	8643
	19207
	ENSG00000117425
	ENSMUSG00000028681
	Q9Y6C5
	O35595
	NM_003738; NM_001166292
	NM_008958; NM_001312903
	NP_001159764; NP_003729
	NP_001299832; NP_032984
	Wikidata
View/Edit Human	View/Edit Mouse

Patched 2 is a protein that in humans is encoded by the PTCH2 gene.^[4]

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.^[4]

Clinical significance

Alterations in this gene have been associated with nevoid basal cell carcinoma syndrome, basal cell carcinoma, medulloblastoma, and susceptibility to congenital macrostomia.^[4]

References

^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000028681 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b ^c "Entrez Gene: Patched 2".

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". GeneReviews. PMID 20301330.
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.

This article on a gene on human chromosome 1 is a stub. You can help Wikipedia by expanding it.

[refGRCm38Ensembl-1] GRCm38: Ensembl release 89: ENSMUSG00000028681 – Ensembl, May 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[3] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-4] "Entrez Gene: Patched 2".

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PTCH2

Function

Clinical significance

References

Further reading