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HPSE2 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

HPSE2 gene

The HPSE2 gene provides instructions for the heparanase 2 protein, which is believed to play a role in regulating cellular structures and is linked to Ochoa syndrome.

Normal Function

The HPSE2 gene provides instructions for making a protein called heparanase 2. Its structure is similar to that of heparanase 1, an enzyme that splits (cleaves) molecules called heparan sulfate proteoglycans (HSPGs). HSPGs are important parts of the extracellular matrix and basement membranes, which support cells in many tissues. While the specific function of heparanase 2 is not well understood, studies suggest that it may block the action of heparanase 1.

Health Conditions Related to Genetic Changes

Ochoa syndrome

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.

  • Potential Causes: The connection between HPSE2 mutations and the features of Ochoa syndrome is not fully clear. Researchers have proposed several theories:
    • Genetic changes may lead to an abnormality in the brain region that controls both facial expression and urination, as these areas are in close proximity.
    • 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.

Migraine

MedlinePlus Genetics provides information about Migraine.

Other Names for This Gene

  • heparanase 2
  • heparanase-2
  • HPA2
  • HPR2
  • HPSE2_HUMAN

Frequently Asked Questions

Management is usually supportive: clean intermittent catheterization, bladder training, anticholinergic medications to reduce bladder overactivity, and prophylactic antibiotics for recurrent infections. In severe cases, surgical interventions such as bladder augmentation or urinary diversion may be considered. Regular urology follow‑up is essential.
Urinary symptoms include frequent, urgent, or painful urination, urinary tract infections, and sometimes bladder dysfunction that can lead to incontinence. Facial symptoms are characterized by a distinctive “smiling” expression that appears involuntary when the patient is awake. These signs often become noticeable in infancy or early childhood, but the severity can vary widely.
Blood or saliva DNA is sequenced using targeted gene panels or whole-exome sequencing that include the HPSE2 gene. Once a variant is identified, it is compared against databases (ClinVar, HGMD) and confirmed by Sanger sequencing if necessary. Genetic counseling is recommended to interpret the results and discuss implications for family members.
Ochoa syndrome follows an autosomal recessive inheritance pattern. Both parents must carry a pathogenic HPSE2 variant for a child to be affected. If each parent is a carrier, there is a 25 % chance of an affected child, a 50 % chance of a carrier child, and a 25 % chance of a child with no mutation. Carrier testing and prenatal testing are options for families with known mutations.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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