Entity Details

Primary name HPSE2
Entity type gene
Source Source Link

Details

PrimaryID60495
RefseqGeneNG_023416
SymbolHPSE2
Nameheparanase 2 (inactive)
Chromosome10
Location10q24.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-11-11
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsHPSE2_HUMAN

GO terms

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GOName
GO:0005576 extracellular region
GO:0005886 plasma membrane
GO:0006027 glycosaminoglycan catabolic process
GO:0008284 positive regulation of cell population proliferation
GO:0030198 extracellular matrix organization
GO:0030305 heparanase activity
GO:0031012 extracellular matrix
GO:0043395 heparan sulfate proteoglycan binding

Diseases

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Disease IDSourceNameDescription
236730 OMIMUrofacial syndrome 1 (UFS1)A rare autosomal recessive disorder characterized by facial grimacing when attempting to smile and failure of the urinary bladder to void completely despite a lack of anatomical bladder outflow obstruction or overt neurological damage. Affected individuals often have reflux of infected urine from the bladder to the upper renal tract, with a risk of kidney damage and renal failure. The disease is caused by variants affecting the gene represented in this entry.

Interactions

2 interactions

InteractorPartnerSourcesPublicationsLink
HPSE2H2BC9BioGRID, IntAct30021884 details
HPSE2PTENBioGRID30631154 details