HPSE2

Chr 10q24.2

heparanase 2 (inactive)

Aliases:: HPA2, HPR2
MANE:: ENST00000370552.8

OMIM: 613469 ↗NCBI: 60495 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

HPSE2 · Q8WWQ2

v62025-08-01

Predicted Aligned Error matrix for HPSE2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

82.3/ 100

Confident

592 residues

Confidence breakdown

Very high(≥ 90)62%
Confident(70–90)17%
Low(50–70)5%
Very low(< 50)16%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

CAKUT
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Unexplained kidney failure in young people
BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease - additional genes
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Ochoa syndrome
0.76
congenital anomaly of kidney and urinary tract
0.42
Abnormality of the skeletal system
0.41
Headache
0.40
migraine disorder
0.38
ureterolithiasis
0.29
headache disorder
0.29
arthropathy
0.26
Pain
0.26
multinodular goiter
0.26

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Inactive heparanase-2

Binds heparin and heparan sulfate with high affinity, but lacks heparanase activity. Inhibits HPSE, possibly by competing for its substrates (in vitro)