Heparanase 2 (HPSE2) cleaves heparan sulfate from its proteoglycan (plasma membrane)

Stable Identifier
Reaction [transition]
Homo sapiens
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Heparanase 2 (HPSE2) (McKenzie et al. 2000) is a membrane-bound endoglycosidase that cleaves heparan sulfate (HS) from its HS proteoglycan (HSPG), either in the extracellular matrix or the basement membranes of cells. Defects in HPSE2 are the cause of urofacial syndrome (UFS) (MIM:236730) (Daly et al. 2010, Pang et al. 2010).

Literature References
PubMed ID Title Journal Year
20560210 Mutations in HPSE2 cause urofacial syndrome

Woolf, AS, Black, GC, Stuart, H, Burgu, B, Donnai, D, Lewis, M, Newman, WG, Shalev, S, McKenzie, EA, Gener, B, Aydogdu, O, Derbent, M, Garcia-Minaur, S, Hilton, E, Daly, SB, Long, DA, Kerr, B, Urquhart, JE, Smith, R, Reardon, W, Kammerer, RA

Am J Hum Genet 2010
20560209 Loss-of-function mutations in HPSE2 cause the autosomal recessive urofacial syndrome

Ochoa, B, Voelckel, MA, Mei, L, Zhang, S, Xiong, WC, She, JX, Gu, W, Yang, P, Fisher, RB, Wang, CY, Pang, J, Zhang, Y, Zhong, J, Agundez, JA, Hawkins-Lee, B

Am J Hum Genet 2010
11027606 Cloning and expression profiling of Hpa2, a novel mammalian heparanase family member

Tyson, K, McKenzie, E, Smith, P, Stamps, A, Stubberfield, C, Turner, P, Barry, E, Patel, S, Page, M, Hircock, M, Barry, R, Terrett, J

Biochem Biophys Res Commun 2000
Catalyst Activity

heparanase activity of HPSE2(1-592) [plasma membrane]

Orthologous Events
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