Heparanase 2

Alternative Names

  • HPSE2
  • Heparanase-2
  • HPA2

Associated Diseases

Urofacial Syndrome
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OMIM Number

613469

Gene Map Locus
10q24.2

Description

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.  

Molecular Genetics

The HPSE2 gene is located on the long arm of chromosome 10 at position 24.2.  It spans 778,799 bases and contains 18 exons.  To date, at least nine HPSE2 gene mutations have been identified in people with Ochoa syndrome.  The Heparanase 2 protein consists of 592 amino acids with a molecular weight of about 66.5 kDa.  It shows 44% identity and 59% similarity to the endoglycosidase Heparanase 1. 

Most HPSE2 mutations in Ochoa Syndrome are predicted to be null mutations.  

Epidemiology in the Arab World

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Other Reports

Saudi Arabia

Al Badr et al. (2011) studied an 11-year-old girl with Ochoa Syndrome who was the second of three children of healthy parents that were first degree cousins.  Molecular analysis enabled the detection of a 5-bp deletion in exon 10 of the HPSE gene at c.1374_1378delTGTGC, which caused a frameshift beginning at codon 458 and predicted the replacement of the C-terminal 132 amino acids with a novel 153 amino acid peptide.  The authors stressed on the importance of establishing an early diagnosis, since the morphologic and functional damage in the urinary tract is progressive in this syndrome.

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