HPSE2

HPSE2
Identifiers
Aliases HPSE2, HPA2, HPR2, UFS, UFS1, heparanase 2 (inactive)
External IDs MGI: 2685814 HomoloGene: 19680 GeneCards: HPSE2
Genetically Related Diseases
asthma, obesity[1]
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez

60495

545291

Ensembl

ENSG00000172987

ENSMUSG00000074852

UniProt

Q8WWQ2

B2RY83

RefSeq (mRNA)

NM_001166244
NM_001166245
NM_001166246
NM_021828

NM_001081257

RefSeq (protein)

NP_001159716.1
NP_001159717.1
NP_001159718.1
NP_068600.4

NP_001074726.1

Location (UCSC) Chr 10: 98.46 – 99.24 Mb Chr 19: 42.79 – 43.39 Mb
PubMed search [2] [3]
Wikidata
View/Edit HumanView/Edit Mouse

Heparanase-2 is an enzyme that in humans is encoded by the HPSE2 gene.[4][5]

It may be associated with urofacial syndrome.[6]

References

  1. "Diseases that are genetically associated with HPSE2 view/edit references on wikidata".
  2. "Human PubMed Reference:".
  3. "Mouse PubMed Reference:".
  4. 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.
  5. "Entrez Gene: HPSE2 heparanase 2".
  6. 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 3032078Freely accessible. PMID 20560210.

Further reading


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