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    HPSE2 heparanase 2 [ Homo sapiens (human) ]

    Gene ID: 60495, updated on 13-Jun-2013
    Official Symbol
    HPSE2provided by HGNC
    Official Full Name
    heparanase 2provided by HGNC
    Primary source
    HGNC:18374
    See related
    HPRD:13669; MIM:613469
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    UFS; HPA2; HPR2; UFS1
    Summary
    This gene encodes a heparanase enzyme. The encoded protein is a endoglycosidase that degrades heparin sulfate proteoglycans located on the extracellular matrix and cell surface. This protein may be involved in biological processes involving remodeling of the extracellular matrix including angiogenesis and tumor progression. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
    Location :
    10q23-q24
    Sequence :
    Chromosome: 10; NC_000010.10 (100216834..100995632, complement)
    See HPSE2 in Epigenomics, MapViewer

    Chromosome 10 - NC_000010.10Genomic Context describing neighboring genes Neighboring gene pyridine nucleotide-disulphide oxidoreductase domain 2 Neighboring gene microRNA 1287 Neighboring gene microRNA 4685 Neighboring gene Hermansky-Pudlak syndrome 1 Neighboring gene ADP-ribosylation factor-like 5A pseudogene 2 Neighboring gene ribosomal protein L7 pseudogene 36 Neighboring gene cyclin M1 Neighboring gene glutamic-oxaloacetic transaminase 1, soluble

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    • Disease, organism-specific biosystem (from REACTOME)
      Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
    • Glycosaminoglycan degradation, organism-specific biosystem (from KEGG)
      Glycosaminoglycan degradation, organism-specific biosystem
      Glycosaminoglycan degradation
    • Glycosaminoglycan degradation, conserved biosystem (from KEGG)
      Glycosaminoglycan degradation, conserved biosystem
      Glycosaminoglycan degradation
    • Glycosaminoglycan metabolism, organism-specific biosystem (from REACTOME)
      Glycosaminoglycan metabolism, organism-specific biosystemGlycosaminoglycans (GAGs) are long, unbranched polysaccharides containing a repeating disaccharide unit composed of a hexosamine (either N-acetylgalactosamine (GalNAc) or N-acetylglucosamine (GlcNAc)...
    • HS-GAG degradation, organism-specific biosystem (from REACTOME)
      HS-GAG degradation, organism-specific biosystemLysosomal degradation of glycoproteins is part of the cellular homeostasis of glycosylation (Winchester 2005). The steps outlined below describe the degradation of heparan sulfate/heparin. Complete d...
    • Heparan sulfate degradation, organism-specific biosystem (from KEGG)
      Heparan sulfate degradation, organism-specific biosystemPathway module; Carbohydrate and lipid metabolism; Glycosaminoglycan metabolism
    • Heparan sulfate degradation, conserved biosystem (from KEGG)
      Heparan sulfate degradation, conserved biosystemPathway module; Carbohydrate and lipid metabolism; Glycosaminoglycan metabolism
    • Heparan sulfate/heparin (HS-GAG) metabolism, organism-specific biosystem (from REACTOME)
      Heparan sulfate/heparin (HS-GAG) metabolism, organism-specific biosystemThe acronym HS-GAG is used to describe both heparin and heparan sulfate. HS-GAG is a member of the glycosaminoglycan family and consists of a variably sulfated repeating disaccharide unit, the most ...
    • MPS I - Hurler syndrome, organism-specific biosystem (from REACTOME)
      MPS I - Hurler syndrome, organism-specific biosystemMucopolysaccharidosis type I (MPS I, Hurler syndrome, Hurler's disease, gargoylism, Scheie, Hirler-Scheie syndrome; MIM:607014, 607015 and 607016) is an autosomal recessive genetic disorder where th...
    • MPS II - Hunter syndrome, organism-specific biosystem (from REACTOME)
      MPS II - Hunter syndrome, organism-specific biosystemMucopolysaccharidosis II (MPS II, Hunter syndrome, MIM:309900) is an X-linked, recessive genetic disorder which therefore primarily affects males. MPS II was first described in 1917, by Major Charles...
    • MPS IIIA - Sanfilippo syndrome A, organism-specific biosystem (from REACTOME)
      MPS IIIA - Sanfilippo syndrome A, organism-specific biosystemMucopolysaccharidosis III (MPS III, Sanfilippo syndrome) was described in 1963 by a pediatrician named Sylvester Sanfilippo (J. Pediat. 63: 837-838, 1963, no reference). Mucopolysaccharidosis IIIA (M...
    • MPS IIIB - Sanfilippo syndrome B, organism-specific biosystem (from REACTOME)
      MPS IIIB - Sanfilippo syndrome B, organism-specific biosystemMucopolysaccharidosis III (Sanfilippo syndrome) was described in 1963 by a pediatrician named Sylvester Sanfilippo (J. Pediat. 63: 837838, 1963, no reference). MPS IIIB (Mucopolysaccharidosis type II...
    • MPS IIIC - Sanfilippo syndrome C, organism-specific biosystem (from REACTOME)
      MPS IIIC - Sanfilippo syndrome C, organism-specific biosystemMucopolysaccharidosis III (Sanfilippo syndrome) was described in 1963 by a pediatrician named Sylvester Sanfilippo (J. Pediat. 63: 837838, 1963, no reference). Mucopolysaccharidosis type IIIC (MPS II...
    • MPS IIID - Sanfilippo syndrome D, organism-specific biosystem (from REACTOME)
      MPS IIID - Sanfilippo syndrome D, organism-specific biosystemMucopolysaccharidosis III (Sanfilippo syndrome) was described in 1963 by a pediatrician named Sylvester Sanfilippo (J. Pediat. 63: 837-838, 1963, no reference). Mucopolysaccharidosis type IIID (MPS I...
    • MPS IV - Morquio syndrome A, organism-specific biosystem (from REACTOME)
      MPS IV - Morquio syndrome A, organism-specific biosystemMucopolysaccharidosis IV A (MPS IVA, MPS4A, Morquio's syndrome, Morquio's; MIM:253000) is a rare, autosomal recessive mucopolysaccharide storage disease, first described simultaneously in 1929 by L M...
    • MPS IV - Morquio syndrome B, organism-specific biosystem (from REACTOME)
      MPS IV - Morquio syndrome B, organism-specific biosystemDefects in beta-galactosidase (GLB1; MIM:611458) can result in GM1 gangliosidosis (GM1; MIM:230500) (Nishimoto et al. 1991) (not described here), with several phenotypes indicating mental deteriorati...
    • MPS IX - Natowicz syndrome, organism-specific biosystem (from REACTOME)
      MPS IX - Natowicz syndrome, organism-specific biosystemMucopolysaccharidosis type IX (MPS IX, Natowicz syndrome, Hyaluronidase deficiency, MIM:601492) is a rare lysosomal storage disease characterized by high hyaluronan (HA) concentration in the serum re...
    • MPS VI - Maroteaux-Lamy syndrome, organism-specific biosystem (from REACTOME)
      MPS VI - Maroteaux-Lamy syndrome, organism-specific biosystemMucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome, polydystrophic dwarfism; MIM:253200) is an autosomal recessive lysosomal storage disorder caused by a deficiency in arylsulfatase B (AR...
    • MPS VII - Sly syndrome, organism-specific biosystem (from REACTOME)
      MPS VII - Sly syndrome, organism-specific biosystemMucopolysaccharidosis type VII (MPS VII, Sly syndrome, beta-glucuronidase deficiency; MIM:253220) is an autosomal recessive lysosomal storage disease characterized by a deficiency of the enzyme beta-...
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of carbohydrates, organism-specific biosystem (from REACTOME)
      Metabolism of carbohydrates, organism-specific biosystemThese pathways together are responsible for: 1) the extraction of energy and carbon skeletons for biosyntheses from dietary sugars and related molecules; 2) the short-term storage of glucose in the b...
    • Mucopolysaccharidoses, organism-specific biosystem (from REACTOME)
      Mucopolysaccharidoses, organism-specific biosystemThe mucopolysaccharidoses (MPS) are a group of rare, inherited lysosomal storage disorders caused by deficiencies of enzymes catalyzing the stepwise degradation of glycosaminoglycans (GAGs, originall...
    • Proteoglycans in cancer, organism-specific biosystem (from KEGG)
      Proteoglycans in cancer, organism-specific biosystemMany proteoglycans (PGs) in the tumor microenvironment have been shown to be key macromolecules that contribute to biology of various types of cancer including proliferation, adhesion, angiogenesis a...
    • Proteoglycans in cancer, conserved biosystem (from KEGG)
      Proteoglycans in cancer, conserved biosystemMany proteoglycans (PGs) in the tumor microenvironment have been shown to be key macromolecules that contribute to biology of various types of cancer including proliferation, adhesion, angiogenesis a...

    Markers

    Homology

    Clone Names

    • FLJ11684, FLJ44022, MGC133234

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    heparan sulfate proteoglycan binding IDA
    Inferred from Direct Assay
    more info
     
    NOT heparanase activity IDA
    Inferred from Direct Assay
    more info
     
    heparanase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    biological_process ND
    No biological Data available
    more info
     
    carbohydrate metabolic process TAS
    Traceable Author Statement
    more info
     
    glycosaminoglycan catabolic process TAS
    Traceable Author Statement
    more info
     
    glycosaminoglycan metabolic process TAS
    Traceable Author Statement
    more info
     
    small molecule metabolic process TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    intracellular TAS
    Traceable Author Statement
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    proteinaceous extracellular matrix IDA
    Inferred from Direct Assay
    more info
     
    Preferred Names
    inactive heparanase-2
    Names
    inactive heparanase-2
    heparanase 3
    heparanase-like protein

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_023416.1 RefSeqGene

      Range
      5001..783799
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001166244.1NP_001159716.1  inactive heparanase-2 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AF282886, AL139243, AL445251
      Consensus CDS
      CCDS53567.1
      UniProtKB/Swiss-Prot
      Q8WWQ2
      Conserved Domains (1) summary
      pfam03662
      Location:213350
      Blast Score: 91
      Glyco_hydro_79n; Glycosyl hydrolase family 79, N-terminal domain
    2. NM_001166245.1NP_001159717.1  inactive heparanase-2 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two in-frame exons in the coding region, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AF282885, AL139243, AL445251
      Consensus CDS
      CCDS53566.1
      UniProtKB/Swiss-Prot
      Q8WWQ2
      Conserved Domains (1) summary
      pfam03662
      Location:159296
      Blast Score: 90
      Glyco_hydro_79n; Glycosyl hydrolase family 79, N-terminal domain
    3. NM_001166246.1NP_001159718.1  inactive heparanase-2 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 3' UTR and 3' coding region, compared to variant 1. The encoded isoform (4) is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AJ299720, AL139243, AL356220, AL445251
      Consensus CDS
      CCDS53568.1
      UniProtKB/Swiss-Prot
      Q8WWQ2
      Conserved Domains (1) summary
      pfam03662
      Location:256408
      Blast Score: 110
      Glyco_hydro_79n; Glycosyl hydrolase family 79, N-terminal domain
    4. NM_021828.4NP_068600.4  inactive heparanase-2 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AL139243, AL445251, BC112356
      Consensus CDS
      CCDS7477.1
      UniProtKB/TrEMBL
      Q2M1H9
      UniProtKB/Swiss-Prot
      Q8WWQ2
      Conserved Domains (1) summary
      pfam03662
      Location:256408
      Blast Score: 111
      Glyco_hydro_79n; Glycosyl hydrolase family 79, N-terminal domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000010.10 Reference GRCh37.p10 Primary Assembly

      Range
      100216834..100995632, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000142.1 Alternate HuRef

      Range
      93841617..94106699, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018921.1 Alternate CHM1_1.0

      Range
      100578622..101357469, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

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