The HPSE2 gene encodes the heparanase 2 protein. The protein is an endoglycosidase that degrades heparin sulfate proteoglycans located on the extracellular matrix and cell surface. There is evidence to show that the Heparanase 2 protein inhibits heparanase enzymatic activity, likely due to its high affinity to heparin and heparan sulfate and its ability to associate physically with heparanase. This protein may be involved in biological processes involving remodeling of the extracellular matrix, including angiogenesis and tumor progression. Alternate splicing results in multiple transcript variants. Defects in the heparanase 2 protein disrupt normal functioning.
Mutations in this gene are implicated in the pathogenesis of Ochoa Syndrome, a rare autosomal recessive disease characterized by a severe and early-onset form of dysfunctional urinary voiding. In addition, the Hspe2 protein is known to be over-expressed in head and neck cancers, correlating with longer times for disease recurrence to happen and inversely correlating with tumor progression and metastasis.