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Genetics Home Reference: your guide to understanding genetic conditions     A service of the U.S. National Library of Medicine®


Reviewed March 2012

What is the official name of the HPSE2 gene?

The official name of this gene is “heparanase 2 (inactive).”

HPSE2 is the gene's official symbol. The HPSE2 gene is also known by other names, listed below.

What is the normal function of the HPSE2 gene?

The HPSE2 gene provides instructions for making a protein called heparanase 2. Little is known about this protein, but its structure is similar to that of another protein called heparanase 1. Heparanase 1 is an enzyme that splits (cleaves) molecules called heparan sulfate proteoglycans (HSPGs) by removing the heparan sulfate portion (the side chain).

HSPGs are important parts of the lattice of proteins and other molecules outside the cell (extracellular matrix) and of basement membranes, which are thin, sheet-like structures that separate and support cells in many tissues. Cleavage of HSPGs by heparanase 1 may lead to changes in the basement membrane or extracellular matrix that allow cell movement or release of substances from the cell. The specific function of the heparanase 2 enzyme is not well understood, but studies suggest that it may block the action of heparanase 1.

How are changes in the HPSE2 gene related to health conditions?

Ochoa syndrome - associated with the HPSE2 gene

At least nine HPSE2 gene mutations have been identified in people with Ochoa syndrome (also called urofacial syndrome), a disorder that causes urinary problems and unusual facial expressions. These mutations result in changes in the heparanase 2 protein that likely prevent it from functioning. The connection between HPSE2 gene mutations and the features of Ochoa syndrome are unclear. Because the areas of the brain that control facial expression and urination are in close proximity, some researchers have suggested that the genetic changes may lead to an abnormality in this brain region that may account for the symptoms of Ochoa syndrome. Other researchers believe that a defective heparanase 2 protein may lead to problems with the development of the urinary tract or with muscle function in the face and bladder.

Where is the HPSE2 gene located?

Cytogenetic Location: 10q23-q24

Molecular Location on chromosome 10: base pairs 98,457,077 to 99,235,875

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (

The HPSE2 gene is located on the long (q) arm of chromosome 10 between positions 23 and 24.

The HPSE2 gene is located on the long (q) arm of chromosome 10 between positions 23 and 24.

More precisely, the HPSE2 gene is located from base pair 98,457,077 to base pair 99,235,875 on chromosome 10.

See How do geneticists indicate the location of a gene? ( in the Handbook.

Where can I find additional information about HPSE2?

You and your healthcare professional may find the following resources about HPSE2 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the HPSE2 gene or gene products?

  • heparanase 2
  • heparanase-2
  • HPA2
  • HPR2

See How are genetic conditions and genes named? ( in the Handbook.

What glossary definitions help with understanding HPSE2?

basement membrane ; basement membranes ; cell ; enzyme ; extracellular ; extracellular matrix ; gene ; heparan sulfate ; protein ; sulfate ; syndrome

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.


  • Al Badr W, Al Bader S, Otto E, Hildebrandt F, Ackley T, Peng W, Xu J, Li J, Owens KM, Bloom D, Innis JW. Exome capture and massively parallel sequencing identifies a novel HPSE2 mutation in a Saudi Arabian child with Ochoa (urofacial) syndrome. J Pediatr Urol. 2011 Oct;7(5):569-73. doi: 10.1016/j.jpurol.2011.02.034. Epub 2011 Mar 29. (
  • Daly SB, Urquhart JE, Hilton E, McKenzie EA, Kammerer RA, Lewis M, Kerr B, Stuart H, Donnai D, Long DA, Burgu B, Aydogdu O, Derbent M, Garcia-Minaur S, Reardon W, Gener B, Shalev S, Smith R, Woolf AS, Black GC, Newman WG. Mutations in HPSE2 cause urofacial syndrome. Am J Hum Genet. 2010 Jun 11;86(6):963-9. Erratum in: Am J Hum Genet. 2010 Aug 13;87(2):309. (
  • NCBI Gene (
  • Pang J, Zhang S, Yang P, Hawkins-Lee B, Zhong J, Zhang Y, Ochoa B, Agundez JA, Voelckel MA, Fisher RB, Gu W, Xiong WC, Mei L, She JX, Wang CY. Loss-of-function mutations in HPSE2 cause the autosomal recessive urofacial syndrome. Am J Hum Genet. 2010 Jun 11;86(6):957-62. Erratum in: Am J Hum Genet. 2010 Jul 9;87(1):161. Fisher, Richard B [added]. (


The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? ( in the Handbook.

Reviewed: March 2012
Published: February 8, 2016