Database for Annotation, Visualization and Integrated Discovery 2.1
National Institute of Allergy and Infectious Disease
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heparanase 2 (inactive)(HPSE2) heparanase 2 (inactive)(HPSE2) Related Genes Homo sapiens
CYTOBAND 10q23-q24,
GENERIF_SUMMARY Heparanase may facilitate invasion and metastasis of gastric carcinoma cells., Study demonstrating that increased heparanase expression in prostate cancer tissues is due to promoter hypomethylation and up-regulation of transcription factor EGR1., Heparanase expression seems to be involved in the invasiveness and aggressiveness of head and neck squamous cell carcinomas., Heparanase expression is inversely correlated with survival of nasopharyngeal carcinoma (NPC) patients, indicating heparanase is a reliable prognostic factor, and further supports that heparanase is a valid target for the development of anti-cancer drugs., HPSE plays a role in extracellular matrix remodeling and in increasing heparin-binding growth factor release during embryo implantation., Data suggest that loss of modified heparan sulphate in the GBM is mediated by an increased heparanase presence and may play a role in the pathogenesis of diabetes-induced proteinuria., Heparanase 2 is involved in neoplastic proliferation, but it was not exclusively associated with the malignant process., These results indicate a regulatory effect of heparanase on TFPI and TFPI-2 in trophoblasts, suggesting a potential involvement of heparanase in early miscarriages., Results demonstrated that the effectors from heparanase peptide-immunized mice could effectively lyse various tumor cells that were heparanase positive and HLA-A*0201 matched., We now report evidence that Heparanse 2 (HPSE2) is the culprit gene for the syndrome. Mutations with a loss of function in the Heparanase 2 (HPSE2) gene, Homozygous exonic deletions, nonsense mutations, and frameshift mutations in five further unrelated families confirmed HPSE2 as the causative gene for UFS, Studies indicate that cathepsin L as the heparanase activating protease., HPSE2 c.631T>C (p.Y211H) is a novel benign SNP and c.1628A>T (p.N543I) is the disease-causing mutation in urofacial syndrome., A large region of marker homozygosity was observed at 10q24, consistent with known autosomal recessive inheritance, family consanguinity and previous genetic mapping in other families with Ochoa syndrome., Data indicate that the overexpression of HPSE1 and HPSE2 in the intervertebral degenerated discs suggests a role for these factors in mediating extracellular matrix remodeling in degenerative discs during disease development., High expression of heparanase-2 is associated significantly with gastric tumor growth and differentiation, autonomic neural protein implicated in bladder emptying, Heparanase 2 is more intensely expressed in the glandular tissue of cancer than in nonneoplastic endometrium; the HPSE2 expression in the stromal tissue is higher in the nonneoplastic controls compared with cancer mainly in the secretory endometrium., HPSE2 mutations were found in one Urofacial syndrome family but not detected in patients with non-neurogenic neurogenic bladder and severe lower urinary tract dysfunction, Our findings identified these 2 genes as a novel breast cancer biomarker gene set, which may facilitate the diagnosis and treatment in breast cancer clinical therapies.,
OMIM_DISEASE Urofacial syndrome 1,
SP_COMMENT function:Endoglycosidase which is a cell surface and extracellular matrix-degrading enzyme. Cleaves heparan sulfate proteoglycans (HSPGs) into heparan sulfate side chains and core proteoglycans. Also implicated in the extravasation of leukocytes and tumor cell lines. Due to its contribution to metastasis and angiogenesis, it is considered to be a potential target for anti-cancer therapies., similarity:Belongs to the glycosyl hydrolase 79 family., tissue specificity:Widely expressed, with the highest expression in brain, mammary gland, prostate, small intestine, testis and uterus. Found both in normal and cancer tissues.,