HPSE2 Chromosome 10
Heparanase 2 (inactive)
Upload your DNA to see your personal genotypes for variants in HPSE2.
What This Gene Does
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]
Gene Info
Gene Group
"Heparanase family|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
10q24.2
Ensembl
ENSG00000172987
Associated Conditions (4)
Urofacial syndrome type 1
Ochoa syndrome
Congenital anomaly of kidney and urinary tract
HPSE2-related disorder
Key Variants
RS1948934089
Likely pathogenic
Health Risk
RS2134170202
Likely pathogenic
Health Risk
RS2493847217
Likely pathogenic
Health Risk
RS1469962264
Pathogenic
Urofacial syndrome type 1, Urofacial syndrome type 1
Health Risk
RS184270108
Pathogenic
Ochoa syndrome, Urofacial syndrome type 1, Ochoa syndrome
Health Risk
RS2133951833
Pathogenic
Ochoa syndrome, Urofacial syndrome type 1, Ochoa syndrome
Health Risk
RS2133986448
Pathogenic
Congenital anomaly of kidney and urinary tract, Congenital anomaly of kidney and urinary tract
Health Risk
RS2134250333
Pathogenic
Urofacial syndrome type 1, Urofacial syndrome type 1
Health Risk
RS267606864
Pathogenic
Urofacial syndrome type 1, Urofacial syndrome type 1
Health Risk
RS397515452
Pathogenic
Urofacial syndrome type 1, Urofacial syndrome type 1
Health Risk
RS778121647
Pathogenic
Urofacial syndrome type 1, HPSE2-related disorder, Urofacial syndrome type 1
Health Risk
RS267606865
Pathogenic/Likely pathogenic
Urofacial syndrome type 1, Congenital anomaly of kidney and urinary tract, Urofacial syndrome type 1
Health Risk
All Variants (14)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1948934089 | Health Risk | Likely pathogenic | — |
| RS2134170202 | Health Risk | Likely pathogenic | — |
| RS2493847217 | Health Risk | Likely pathogenic | — |
| RS1469962264 | Health Risk | Pathogenic | Urofacial syndrome type 1, Urofacial syndrome type 1 |
| RS184270108 | Health Risk | Pathogenic | Ochoa syndrome, Urofacial syndrome type 1, Ochoa syndrome |
| RS2133951833 | Health Risk | Pathogenic | Ochoa syndrome, Urofacial syndrome type 1, Ochoa syndrome |
| RS2133986448 | Health Risk | Pathogenic | Congenital anomaly of kidney and urinary tract, Congenital anomaly of kidney and urinary tract |
| RS2134250333 | Health Risk | Pathogenic | Urofacial syndrome type 1, Urofacial syndrome type 1 |
| RS267606864 | Health Risk | Pathogenic | Urofacial syndrome type 1, Urofacial syndrome type 1 |
| RS397515452 | Health Risk | Pathogenic | Urofacial syndrome type 1, Urofacial syndrome type 1 |
| RS778121647 | Health Risk | Pathogenic | Urofacial syndrome type 1, HPSE2-related disorder, Urofacial syndrome type 1 |
| RS267606865 | Health Risk | Pathogenic/Likely pathogenic | Urofacial syndrome type 1, Congenital anomaly of kidney and urinary tract, Urofacial syndrome type 1 |
| RS267606866 | Health Risk | Pathogenic/Likely pathogenic | Urofacial syndrome type 1, Urofacial syndrome type 1 |
| RS397515338 | Health Risk | Pathogenic/Likely pathogenic | Urofacial syndrome type 1, Urofacial syndrome type 1 |