HPSE2

Chr 10

heparanase 2 (inactive)

Also known as: HPA2, HPR2, UFS, UFS1

NCBI Gene: 60495ENSG00000172987UniProt: Q8WWQ2

This gene encodes a heparanase enzyme. The encoded protein is a endoglycosidase that degrades heparin sulfate proteoglycans located on the extracellular matrix and cell surface. 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. [provided by RefSeq, Oct 2009]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtUrofacial syndrome 1

Clinical highlights

Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
12
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.69
LOEUF
LOF
Mechanism· G2P
📖
GeneReview available — HPSE2
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.69LOEUF
pLI 0.000
Z-score 2.79
OE 0.41 (0.26–0.69)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.25Z-score
OE missense 0.96 (0.88–1.06)
316 obs / 328.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.41 (0.26–0.69)
0≤0.351.4
Missense OE?0.96 (0.88–1.06)
0≤0.61.4
Synonymous OE?1.09
0≤1.21.6
LoF obs/exp: 11 / 26.5Missense obs/exp: 316 / 328.5Syn Z: -0.81

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

HPSE2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients