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

Gene ID: 60495, updated on 28-Jun-2021

Summary

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
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]
Expression
Biased expression in esophagus (RPKM 5.3), prostate (RPKM 4.1) and 13 other tissues See more
Orthologs
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Genomic context

See HPSE2 in Genome Data Viewer
Location:
10q24.2
Exon count:
18
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (98457077..99235875, complement)
105.20201022 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 ARL5A pseudogene 2 Neighboring gene ribosomal protein L7 pseudogene 36 Neighboring gene Sharpr-MPRA regulatory region 10329 Neighboring gene cyclin and CBS domain divalent metal cation transport mediator 1

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci.
GeneReviews: Not available
Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.
GeneReviews: Not available
Genome-wide meta-analysis identifies new susceptibility loci for migraine.
GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available
Rank-based genome-wide analysis reveals the association of ryanodine receptor-2 gene variants with childhood asthma among human populations.
GeneReviews: Not available
Urofacial syndrome 1
MedGen: CN033872 OMIM: 236730 GeneReviews: Urofacial Syndrome
Compare labs

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ11684, FLJ44022, MGC133234

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables heparan sulfate proteoglycan binding IDA
Inferred from Direct Assay
more info
PubMed 
NOT enables heparanase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables heparanase activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
 
involved_in extracellular matrix organization IEA
Inferred from Electronic Annotation
more info
 
involved_in glycosaminoglycan catabolic process TAS
Traceable Author Statement
more info
 
involved_in positive regulation of cell population proliferation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in extracellular matrix IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in extracellular matrix IDA
Inferred from Direct Assay
more info
PubMed 
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
inactive heparanase-2
Names
heparanase 3
heparanase-like protein

NCBI Reference Sequences (RefSeq)

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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, ENST00000370549.5
    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, ENST00000628193.2
    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, ENST00000370546.5
    Conserved Domains (1) summary
    pfam03662
    Location:208408
    Glyco_hydro_79n; Glycosyl hydrolase family 79, N-terminal domain
  4. NM_021828.5NP_068600.4  inactive heparanase-2 isoform 1 precursor

    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)
    AF282887, AJ299719, AL139243
    Consensus CDS
    CCDS7477.1
    UniProtKB/Swiss-Prot
    Q8WWQ2
    UniProtKB/TrEMBL
    Q2M1H9
    Related
    ENSP00000359583.3, ENST00000370552.8
    Conserved Domains (1) summary
    pfam03662
    Location:208408
    Glyco_hydro_79n; Glycosyl hydrolase family 79, N-terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 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_024448120.1XP_024303888.1  inactive heparanase-2 isoform X6

    Conserved Domains (1) summary
    pfam03662
    Location:3140
    Glyco_hydro_79n; Glycosyl hydrolase family 79, N-terminal domain
  5. 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
  6. XM_024448119.1XP_024303887.1  inactive heparanase-2 isoform X5

    Conserved Domains (1) summary
    pfam03662
    Location:36236
    Glyco_hydro_79n; Glycosyl hydrolase family 79, N-terminal domain
  7. 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
  8. 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
  9. XM_017016495.1XP_016871984.1  inactive heparanase-2 isoform X1

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

RNA

  1. XR_001747170.1 RNA Sequence

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