2bzl

Structural highlights

Disease

PTN14_HUMAN Lymphedema-posterior choanal atresia syndrome. The disease is caused by mutations affecting the gene represented in this entry. A homozygous deletion in PTPN14 predicted to result in frameshift and premature truncation, has been shown to be the cause of choanal atresia and lymphedema in one family. Influence clinical severity of hereditary haemorragic telagiectasia (HHT).^[1]

Function

PTN14_HUMAN Protein tyrosine phosphatase which may play a role in the regulation of lymphangiogenesis, cell-cell adhesion, cell-matrix adhesion, cell migration, cell growth and also regulates TGF-beta gene expression, thereby modulating epithelial-mesenchymal transition. Mediates beta-catenin dephosphorylation at adhesion junctions. Acts as a negative regulator of the oncogenic property of YAP, a downstream target of the hippo pathway, in a cell density-dependent manner. May function as a tumor suppressor.^{[2] [3] [4] [5] [6] [7] [8]}

Evolutionary Conservation

Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf.

See Also

• Tyrosine phosphatase 3D structures

References

1. ↑ Benzinou M, Clermont FF, Letteboer TG, Kim JH, Espejel S, Harradine KA, Arbelaez J, Luu MT, Roy R, Quigley D, Higgins MN, Zaid M, Aouizerat BE, van Amstel JK, Giraud S, Dupuis-Girod S, Lesca G, Plauchu H, Hughes CC, Westermann CJ, Akhurst RJ. Mouse and human strategies identify PTPN14 as a modifier of angiogenesis and hereditary haemorrhagic telangiectasia. Nat Commun. 2012 Jan 10;3:616. doi: 10.1038/ncomms1633. PMID:22233626 doi:http://dx.doi.org/10.1038/ncomms1633
2. ↑ Wadham C, Gamble JR, Vadas MA, Khew-Goodall Y. Translocation of protein tyrosine phosphatase Pez/PTPD2/PTP36 to the nucleus is associated with induction of cell proliferation. J Cell Sci. 2000 Sep;113 ( Pt 17):3117-23. PMID:10934049
3. ↑ Wadham C, Gamble JR, Vadas MA, Khew-Goodall Y. The protein tyrosine phosphatase Pez is a major phosphatase of adherens junctions and dephosphorylates beta-catenin. Mol Biol Cell. 2003 Jun;14(6):2520-9. doi: 10.1091/mbc.e02-09-0577. Epub 2003 Feb, 6. PMID:12808048 doi:http://dx.doi.org/10.1091/mbc.e02-09-0577
4. ↑ Wyatt L, Wadham C, Crocker LA, Lardelli M, Khew-Goodall Y. The protein tyrosine phosphatase Pez regulates TGFbeta, epithelial-mesenchymal transition, and organ development. J Cell Biol. 2007 Sep 24;178(7):1223-35. doi: 10.1083/jcb.200705035. PMID:17893246 doi:http://dx.doi.org/10.1083/jcb.200705035
5. ↑ Au AC, Hernandez PA, Lieber E, Nadroo AM, Shen YM, Kelley KA, Gelb BD, Diaz GA. Protein tyrosine phosphatase PTPN14 is a regulator of lymphatic function and choanal development in humans. Am J Hum Genet. 2010 Sep 10;87(3):436-44. doi: 10.1016/j.ajhg.2010.08.008. PMID:20826270 doi:http://dx.doi.org/10.1016/j.ajhg.2010.08.008
6. ↑ Benzinou M, Clermont FF, Letteboer TG, Kim JH, Espejel S, Harradine KA, Arbelaez J, Luu MT, Roy R, Quigley D, Higgins MN, Zaid M, Aouizerat BE, van Amstel JK, Giraud S, Dupuis-Girod S, Lesca G, Plauchu H, Hughes CC, Westermann CJ, Akhurst RJ. Mouse and human strategies identify PTPN14 as a modifier of angiogenesis and hereditary haemorrhagic telangiectasia. Nat Commun. 2012 Jan 10;3:616. doi: 10.1038/ncomms1633. PMID:22233626 doi:http://dx.doi.org/10.1038/ncomms1633
7. ↑ Liu X, Yang N, Figel SA, Wilson KE, Morrison CD, Gelman IH, Zhang J. PTPN14 interacts with and negatively regulates the oncogenic function of YAP. Oncogene. 2013 Mar 7;32(10):1266-73. doi: 10.1038/onc.2012.147. Epub 2012 Apr 23. PMID:22525271 doi:http://dx.doi.org/10.1038/onc.2012.147
8. ↑ Wang W, Huang J, Wang X, Yuan J, Li X, Feng L, Park JI, Chen J. PTPN14 is required for the density-dependent control of YAP1. Genes Dev. 2012 Sep 1;26(17):1959-71. doi: 10.1101/gad.192955.112. PMID:22948661 doi:http://dx.doi.org/10.1101/gad.192955.112