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FLASH GENE
Symbol HPSE2 contributors: mct/npt - updated : 24-01-2009
HGNC name heparanase 2
HGNC id 18374
Corresponding disease
UFS urofacial syndrome
Location 10q24.2      Physical location : 100.216.834 - 100.995.632
Synonym name
  • heparanase-like protein
  • heparanase 3
  • Synonym symbol(s) HPR2, HPA2, MGC133234, FLJ11684, FLJ44022
    EC.number 3.2.-.-
    DNA
    TYPE functioning gene
    STRUCTURE 776.74 kb     12 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map cen - D10S2437 - D10S110 - HPSE2 - D10S198 - D10S1309E - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - splicing 4419 - 548 - McKenzie (2000)
    - splicing 4175 - 534 - McKenzie (2000)
    - splicing 4013 - 480 - McKenzie, Deloukas (2004)
    12 - 4349 - 592 - -
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Urinarybladder   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a domain showing sequence homology to the glycosyl hydrolase motif in the heparanase (HPSE)
  • HOMOLOGY
    Homologene
    FAMILY
  • heparanase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    basic FUNCTION
  • may be playing a role in extracellular matrix remodeling and in increasing heparin-binding growth factor release during embryo implantation (D'Souza 2008)
  • may be important for the synergic action of muscles implicated in facial expression and urine voiding (Pang 2010)
  • required for normal lower-urinary-tract innervation and/or neural function
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • constituents of the extracellular matrix and basement membrane
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) UFS
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS