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

Gene ID: 60495, updated on 25-May-2017
Official Symbol
HPSE2provided by HGNC
Official Full Name
heparanase 2 (inactive)provided by HGNC
Primary source
HGNC:HGNC:18374
See related
Ensembl:ENSG00000172987 MIM:613469; Vega:OTTHUMG00000018880
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]
Orthologs
Location:
10q24.2
Exon count:
18
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 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 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 Neighboring gene microRNA 6507 Neighboring gene ADP ribosylation factor like GTPase 5A pseudogene 2 Neighboring gene ribosomal protein L7 pseudogene 36 Neighboring gene uncharacterized LOC107984261 Neighboring gene cyclin and CBS domain divalent metal cation transport mediator 1 Neighboring gene glutamic-oxaloacetic transaminase 1

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Ochoa syndrome
MedGen: C0403555 OMIM: 236730 GeneReviews: Urofacial Syndrome
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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 association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.
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

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
PubMed 
NOT heparanase activity IDA
Inferred from Direct Assay
more info
PubMed 
heparanase activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
extracellular matrix organization IEA
Inferred from Electronic Annotation
more info
 
glycosaminoglycan catabolic process TAS
Traceable Author Statement
more info
 
positive regulation of cell proliferation IEA
Inferred from Electronic Annotation
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
PubMed 
Preferred Names
inactive heparanase-2
Names
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

    See identical proteins and their annotated locations for 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
    Related
    ENSP00000359580.1, OTTHUMP00000020252, ENST00000370549.5, OTTHUMT00000049791
    Conserved Domains (1) summary
    pfam03662
    Location:213350
    Glyco_hydro_79n; Glycosyl hydrolase family 79, N-terminal domain
  2. NM_001166245.1NP_001159717.1  inactive heparanase-2 isoform 3

    See identical proteins and their annotated locations for 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
    Related
    ENSP00000485916.1, OTTHUMP00000279314, ENST00000628193.2, OTTHUMT00000484333
    Conserved Domains (1) summary
    pfam03662
    Location:159296
    Glyco_hydro_79n; Glycosyl hydrolase family 79, N-terminal domain
  3. NM_001166246.1NP_001159718.1  inactive heparanase-2 isoform 4

    See identical proteins and their annotated locations for 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
    Related
    ENSP00000359577.1, OTTHUMP00000020251, ENST00000370546.5, OTTHUMT00000049790
    Conserved Domains (1) summary
    pfam03662
    Location:208408
    Glyco_hydro_79n; Glycosyl hydrolase family 79, N-terminal domain
  4. NM_021828.4NP_068600.4  inactive heparanase-2 isoform 1

    See identical proteins and their annotated locations for 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/Swiss-Prot
    Q8WWQ2
    UniProtKB/TrEMBL
    Q2M1H9
    Related
    ENSP00000359583.3, OTTHUMP00000020250, ENST00000370552.7, OTTHUMT00000049789
    Conserved Domains (1) summary
    pfam03662
    Location:208408
    Glyco_hydro_79n; Glycosyl hydrolase family 79, N-terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p7 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011540029.1XP_011538331.1  inactive heparanase-2 isoform X2

    Conserved Domains (1) summary
    pfam03662
    Location:208408
    Glyco_hydro_79n; Glycosyl hydrolase family 79, N-terminal domain
  2. XM_011540030.1XP_011538332.1  inactive heparanase-2 isoform X3

    Conserved Domains (1) summary
    pfam03662
    Location:154354
    Glyco_hydro_79n; Glycosyl hydrolase family 79, N-terminal domain
  3. XM_017016498.1XP_016871987.1  inactive heparanase-2 isoform X6

    Conserved Domains (1) summary
    pfam03662
    Location:3140
    Glyco_hydro_79n; Glycosyl hydrolase family 79, N-terminal domain
  4. XM_006717937.2XP_006718000.1  inactive heparanase-2 isoform X5

    See identical proteins and their annotated locations for XP_006718000.1

    Conserved Domains (1) summary
    pfam03662
    Location:36236
    Glyco_hydro_79n; Glycosyl hydrolase family 79, N-terminal domain
  5. XM_011540033.2XP_011538335.1  inactive heparanase-2 isoform X6

    Conserved Domains (1) summary
    pfam03662
    Location:3140
    Glyco_hydro_79n; Glycosyl hydrolase family 79, N-terminal domain
  6. XM_011540031.2XP_011538333.1  inactive heparanase-2 isoform X5

    See identical proteins and their annotated locations for XP_011538333.1

    Conserved Domains (1) summary
    pfam03662
    Location:36236
    Glyco_hydro_79n; Glycosyl hydrolase family 79, N-terminal domain
  7. XM_017016497.1XP_016871986.1  inactive heparanase-2 isoform X5

    Related
    ENSP00000384384.2, ENST00000404542.5
    Conserved Domains (1) summary
    pfam03662
    Location:36236
    Glyco_hydro_79n; Glycosyl hydrolase family 79, N-terminal domain
  8. XM_017016495.1XP_016871984.1  inactive heparanase-2 isoform X1

  9. XM_017016496.1XP_016871985.1  inactive heparanase-2 isoform X4

RNA

  1. XR_001747170.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018921.2 Alternate CHM1_1.1

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