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HPSE2 heparanase 2 (inactive) [ Homo sapiens (human) ]

Gene ID: 60495, updated on 19-Jul-2014
Official Symbol
HPSE2provided by HGNC
Official Full Name
heparanase 2 (inactive)provided 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]
See HPSE2 in Epigenomics, MapViewer
Location:
10q23-q24
Exon count:
14
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 10 NC_000010.11 (98457077..99235875, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (100216834..100995632, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927278 Neighboring gene microRNA 4685 Neighboring gene Hermansky-Pudlak syndrome 1 Neighboring gene microRNA 6507 Neighboring gene ADP-ribosylation factor-like 5A pseudogene 2 Neighboring gene ribosomal protein L7 pseudogene 36 Neighboring gene cyclin M1 Neighboring gene uncharacterized LOC101927300 Neighboring gene glutamic-oxaloacetic transaminase 1, soluble

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Ochoa syndrome
MedGen: C0403555 OMIM: 236730 GeneReviews: Not available
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NHGRI GWAS Catalog

Description
A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci.
NHGRI GWA Catalog
Genome-wide meta-analysis identifies new susceptibility loci for migraine.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog
Rank-based genome-wide analysis reveals the association of ryanodine receptor-2 gene variants with childhood asthma among human populations.
NHGRI GWA Catalog
  • Disease, organism-specific biosystem (from REACTOME)
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  • 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)
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  • Heparan sulfate degradation, conserved biosystem (from KEGG)
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  • 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)
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  • 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...
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  • Proteoglycans in cancer, conserved biosystem (from KEGG)
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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 

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

mRNA and Protein(s)

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

    See proteins identical to NP_001159716.1

    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: 96
    Glyco_hydro_79n; Glycosyl hydrolase family 79, N-terminal domain
  2. NM_001166245.1NP_001159717.1  inactive heparanase-2 isoform 3

    See proteins identical to NP_001159717.1

    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: 96
    Glyco_hydro_79n; Glycosyl hydrolase family 79, N-terminal domain
  3. NM_001166246.1NP_001159718.1  inactive heparanase-2 isoform 4

    See proteins identical to NP_001159718.1

    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:192408
    Blast Score: 167
    Glyco_hydro_79n; Glycosyl hydrolase family 79, N-terminal domain
  4. NM_021828.4NP_068600.4  inactive heparanase-2 isoform 1

    See proteins identical to NP_068600.4

    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:192408
    Blast Score: 167
    Glyco_hydro_79n; Glycosyl hydrolase family 79, N-terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000010.11 

    Range
    98457077..99235875
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006717937.1XP_006718000.1  

    Conserved Domains (1) summary
    pfam03662
    Location:20236
    Blast Score: 167
    Glyco_hydro_79n; Glycosyl hydrolase family 79, N-terminal domain

Alternate HuRef

Genomic

  1. AC_000142.1 

    Range
    93841617..94106699
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
  2. AC_000142.1 

    Range
    94130091..94622164
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018921.2 

    Range
    100498701..101277572
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)