InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: HPSE2

Summary

InnateDB Protein

IDBP-294888.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

HPSE2

Protein Name

heparanase 2

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000384384

InnateDB Gene

IDBG-85956 (HPSE2)

Protein Structure

UniProt Annotation

Function

Binds heparin and heparan sulfate with high affinity, but lacks heparanase activity. Inhibits HPSE, possibly by competing for its substrates (in vitro). {ECO:0000269PubMed:20576607}.

Subcellular Localization

Secreted, extracellular space, extracellular matrix {ECO:0000269PubMed:20576607}.

Disease Associations

Urofacial syndrome 1 (UFS1) [MIM:236730]: 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. {ECO:0000269PubMed:20560209, ECO:0000269PubMed:20560210}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Widely expressed, with the highest expression in brain, mammary gland, prostate, small intestine, testis and uterus. In the central nervous system, expressed in the spinal chord, caudate nucleus, thalamus, substantia nigra, medulla oblongata, putamen and pons. In the urinary bladder, expressed in longitudinal and circular layers of detrusor muscle. Found both in normal and cancer tissues. {ECO:0000269PubMed:11027606, ECO:0000269PubMed:20560210}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.

Gene Ontology

Molecular Function

Accession	GO Term
GO:0016798	hydrolase activity, acting on glycosyl bonds
GO:0030305	heparanase activity
GO:0043395	heparan sulfate proteoglycan binding

Biological Process

GO:0005975	carbohydrate metabolic process
GO:0006027	glycosaminoglycan catabolic process
GO:0008150	biological_process
GO:0030203	glycosaminoglycan metabolic process
GO:0044281	small molecule metabolic process