HPSE2

HPSE2
Identifiers
Aliases	HPSE2, HPA2, HPR2, UFS, UFS1, heparanase 2 (inactive)
External IDs	OMIM: 613469; MGI: 2685814; GeneCards: HPSE2
Gene location (Human)
Chr.	Chromosome 10 (human)
End	99,235,862 bp
Gene location (Mouse)
Chr.	Chromosome 19 (mouse)
End	43,376,794 bp
RNA expression pattern
	Top expressed in
	Achilles tendon; ; canal of the cervix; ; gastric mucosa; ; ectocervix; ; popliteal artery; ; tibial arteries; ; hypothalamus; ; caudate nucleus; ; putamen; ; C1 segment;
	Top expressed in
	genital tubercle; ; pineal gland; ; spermatid; ; zygote; ; migratory enteric neural crest cell; ; hand; ; urinary bladder; ; lobe of prostate; ; lip; ; Gonadal ridge;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	heparan sulfate proteoglycan binding; heparanase activity; hydrolase activity, acting on glycosyl bonds;
Cellular component	extracellular region; plasma membrane; intracellular anatomical structure; membrane; extracellular matrix;
Biological process	glycosaminoglycan catabolic process; positive regulation of cell population proliferation; extracellular matrix organization; biological process;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	60495
	545291
	ENSG00000172987
	ENSMUSG00000074852
	Q8WWQ2
	B2RY83
	NM_001166244; NM_001166245; NM_001166246; NM_021828
	NM_001081257
	NP_001159716; NP_001159717; NP_001159718; NP_068600
	NP_001074726
	Wikidata
View/Edit Human	View/Edit Mouse

Inactive heparanase-2 is a protein that in humans is encoded by the HPSE2 gene. This protein is able to bind to heparin and heparan sulfate, but unlike its paralog HPSE, does not have heparanase activity. Instead, HPSE2 inhibits HPSE activity, possibly through competition for substrate.

Pathogenic mutations are associated with urofacial syndrome I (UFS1).

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000172987 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000074852 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ McKenzie E, Tyson K, Stamps A, Smith P, Turner P, Barry R, Hircock M, Patel S, Barry E, Stubberfield C, Terrett J, Page M (Oct 2000). "Cloning and expression profiling of Hpa2, a novel mammalian heparanase family member". Biochem Biophys Res Commun. 276 (3): 1170–7. doi:10.1006/bbrc.2000.3586. PMID 11027606.
↑ "Entrez Gene: HPSE2 heparanase 2".
1 2 "Q8WWQ2 · HPSE2_HUMAN". uniprot.org. UniProt consortium. Retrieved 2026-09-07.
↑ Daly SB, Urquhart JE, Hilton E, et al. (June 2010). "Mutations in HPSE2 Cause Urofacial Syndrome". Am J Hum Genet. 86 (6): 963–969. doi:10.1016/j.ajhg.2010.05.006. PMC 3032078. PMID 20560210.
↑ "UROFACIAL SYNDROME 1; UFS1". omim.org. Johns Hopkins University. Retrieved 2026-09-07.

D'Souza SS, Fazleabas AT, Banerjee P, et al. (2008). "Decidual heparanase activity is increased during pregnancy in the baboon (Papio anubis) and in in vitro decidualization of human stromal cells". Biol. Reprod. 78 (2): 316–23. doi:10.1095/biolreprod.107.063891. PMID 17989358. S2CID 32383560.
Bar-Sela G, Kaplan-Cohen V, Ilan N, et al. (2006). "Heparanase expression in nasopharyngeal carcinoma inversely correlates with patient survival". Histopathology. 49 (2): 188–93. doi:10.1111/j.1365-2559.2006.02469.x. PMID 16879396. S2CID 46173868.
Beckhove P, Helmke BM, Ziouta Y, et al. (2005). "Heparanase expression at the invasion front of human head and neck cancers and correlation with poor prognosis". Clin. Cancer Res. 11 (8): 2899–906. doi:10.1158/1078-0432.CCR-04-0664. PMID 15837740. S2CID 22489633.
Ogishima T, Shiina H, Breault JE, et al. (2005). "Increased heparanase expression is caused by promoter hypomethylation and up-regulation of transcriptional factor early growth response-1 in human prostate cancer". Clin. Cancer Res. 11 (3): 1028–36. doi:10.1158/1078-0432.1028.11.3. PMID 15709168.
Wang Z, Xu H, Jiang L, et al. (2005). "Positive association of heparanase expression with tumor invasion and lymphatic metastasis in gastric carcinoma". Mod. Pathol. 18 (2): 205–11. doi:10.1038/modpathol.3800282. PMID 15475937.
Deloukas P, Earthrowl ME, Grafham DV, et al. (2004). "The DNA sequence and comparative analysis of human chromosome 10". Nature. 429 (6990): 375–81. Bibcode:2004Natur.429..375D. doi:10.1038/nature02462. PMID 15164054.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.

This article on a gene on human chromosome 10 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000172987 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000074852 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid11027606-5] McKenzie E, Tyson K, Stamps A, Smith P, Turner P, Barry R, Hircock M, Patel S, Barry E, Stubberfield C, Terrett J, Page M (Oct 2000). "Cloning and expression profiling of Hpa2, a novel mammalian heparanase family member". Biochem Biophys Res Commun. 276 (3): 1170–7. doi:10.1006/bbrc.2000.3586. PMID 11027606.

[entrez-6] "Entrez Gene: HPSE2 heparanase 2".

[uniprot-7] 1 2 "Q8WWQ2 · HPSE2_HUMAN". uniprot.org. UniProt consortium. Retrieved 2026-09-07.

[pmid20560210-8] Daly SB, Urquhart JE, Hilton E, et al. (June 2010). "Mutations in HPSE2 Cause Urofacial Syndrome". Am J Hum Genet. 86 (6): 963–969. doi:10.1016/j.ajhg.2010.05.006. PMC 3032078. PMID 20560210.

[9] "UROFACIAL SYNDROME 1; UFS1". omim.org. Johns Hopkins University. Retrieved 2026-09-07.

HPSE2

References

Further reading