HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
HPSE
heparanase
Chromosome 4 · 4q21.23
NCBI Gene: 10855Ensembl: ENSG00000173083.17HGNC: HGNC:5164UniProt: Q9Y251
381PubMed Papers
20Diseases
1Drugs
0Pathogenic Variants
RESEARCH IMPACT
Highly StudiedTrending
CLINICAL
Clinical Trials
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transductionpositive regulation of osteoblast proliferationlysosomeregulation of hair follicle developmentVitiligohepatocellular carcinomalymphangiomahemangioma
✦AI Summary

HPSE (heparanase) is an endoglycosidase that cleaves heparan sulfate proteoglycans (HSPGs) in the extracellular matrix, playing crucial roles in immune regulation and disease pathology 1. The enzyme exhibits pH-dependent activity, becoming active under acidic conditions typical of inflammatory environments and tumor invasion 2. HPSE demonstrates broad antiviral activity as an interferon-stimulated gene product, contributing to cellular defense against multiple viral pathogens including hepatitis C virus, yellow fever virus, and HIV-1 3. In cancer contexts, HPSE expression is downregulated in cultured T lymphocytes, and engineered overexpression enhances CAR-T cell tumor infiltration and antitumor activity by improving extracellular matrix degradation 4. The gene contains regulatory elements including enhancer and insulator regions with functional single nucleotide polymorphisms that modulate expression and influence disease susceptibility, particularly acute graft-versus-host disease risk 56. HPSE serves as a biomarker for various conditions, including abdominal aortic aneurysms and pulmonary arterial hypertension 78. In regulatory T cells, HPSE enables access to IL-2 sequestered in the extracellular matrix, supporting immune tolerance mechanisms 1.

Sources cited
1
HPSE cleaves heparan sulfate proteoglycans and enables regulatory T cells to access IL-2 in extracellular matrix
PMID: 38378682
2
HPSE exhibits pH-dependent enzymatic activity and regulates extracellular matrix integrity
PMID: 38555836
3
HPSE functions as an interferon-stimulated gene with broad antiviral activity
PMID: 21478870
4
HPSE expression is downregulated in cultured T cells and enhances CAR-T cell tumor infiltration when overexpressed
PMID: 25849134
5
HPSE gene contains regulatory elements with functional SNPs affecting expression and GVHD risk
PMID: 34685503
6
HPSE gene SNPs correlate with expression and are associated with inflammatory processes and cancer
PMID: 32274712
7
HPSE serves as a biomarker for abdominal aortic aneurysms
PMID: 35769488
8
HPSE is identified as a candidate biomarker for pulmonary arterial hypertension
PMID: 39609799
Disease Associationsⓘ20
VitiligoOpen Targets
0.31Weak
hepatocellular carcinomaOpen Targets
0.30Weak
hemangiomaOpen Targets
0.27Weak
lymphangiomaOpen Targets
0.27Weak
HypercholesterolemiaOpen Targets
0.23Weak
neoplasmOpen Targets
0.12Weak
breast cancerOpen Targets
0.11Weak
gastric cancerOpen Targets
0.11Weak
prostate cancerOpen Targets
0.10Weak
multiple myelomaOpen Targets
0.10Suggestive
systemic lupus erythematosusOpen Targets
0.10Suggestive
triple-negative breast cancerOpen Targets
0.09Suggestive
cancerOpen Targets
0.09Suggestive
colorectal carcinomaOpen Targets
0.09Suggestive
oral squamous cell carcinomaOpen Targets
0.09Suggestive
gliomaOpen Targets
0.09Suggestive
COVID-19Open Targets
0.09Suggestive
non-small cell lung carcinomaOpen Targets
0.08Suggestive
esophageal squamous cell carcinomaOpen Targets
0.08Suggestive
type 2 diabetes mellitusOpen Targets
0.08Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Drug Targets1
MUPARFOSTATPhase III
Acidic fibroblast growth factor inhibitor
hepatocellular carcinoma
Related Genes
HGSProtein interaction99%SDC1Protein interaction91%IDSProtein interaction90%HPSE2Protein interaction90%FBLN5Shared pathway11%SULF2Shared pathway8%
Tissue Expression6 tissues
Ovary
100%
Brain
71%
Lung
60%
Bone Marrow
30%
Heart
14%
Liver
12%
Gene Interaction Network
Click a node to explore
HPSEHGSSDC1IDSHPSE2FBLN5SULF2
PROTEIN STRUCTURE
Preparing viewer…
PDB7RG8 · 1.30 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.07LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.79 [0.59–1.07]
RankingsWhere HPSE stands among ~20K protein-coding genes
  • #791of 20,598
    Most Researched381 · top 5%
  • #10,744of 17,882
    Most Constrained (LOEUF)1.07
Genes detectedHPSE
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
A diverse range of gene products are effectors of the type I interferon antiviral response.
PMID: 21478870
Nature · 2011
1.00
2
Heparanase promotes tumor infiltration and antitumor activity of CAR-redirected T lymphocytes.
PMID: 25849134
Nat Med · 2015
0.90
3
Mechanism of HPSE Gene SNPs Function: From Normal Processes to Inflammation, Cancerogenesis and Tumor Progression.
PMID: 32274712
Adv Exp Med Biol · 2020
0.80
4
Single-Cell Sequencing Analysis and Multiple Machine Learning Methods Identified G0S2 and HPSE as Novel Biomarkers for Abdominal Aortic Aneurysm.
PMID: 35769488
Front Immunol · 2022
0.70
5
Heparanase 2 Modulation Inhibits HSV-2 Replication by Regulating Heparan Sulfate.
PMID: 39772142
Viruses · 2024
0.68