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

Gene ID: 60495, updated on 14-Nov-2024

Summary

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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; AllianceGenome:HGNC:18374
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]
Annotation information
Note: This gene has been reviewed for its involvement in coronavirus biology, and is locus in the vicinity of disease-associated variant(s).
Expression
Biased expression in esophagus (RPKM 5.3), prostate (RPKM 4.1) and 13 other tissues See more
Orthologs
mouse all
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Genomic context

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See HPSE2 in Genome Data Viewer
Location:
10q24.2
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (98457077..99315951, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (99337053..100197827, complement)
RS_2024_09 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 ATAC-STARR-seq lymphoblastoid silent region 2688 Neighboring gene NANOG hESC enhancer GRCh37_chr10:100213105-100213606 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:100215497-100216036 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:100216595-100217198 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2689 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2690 Neighboring gene microRNA 4685 Neighboring gene HPS1 antisense RNA 1 Neighboring gene HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 Neighboring gene MPRA-validated peak1065 silencer Neighboring gene microRNA 6507 Neighboring gene ARL5A pseudogene 2 Neighboring gene ribosomal protein L7 pseudogene 36 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:100912726-100913321 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:100950388-100950888 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2691 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:100996186-100996686 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:100996687-100997187 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:101025587-101026133 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:101056861-101057360 Neighboring gene Sharpr-MPRA regulatory region 10329 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:101117719-101118386 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:101118387-101119053 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3868 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3869 Neighboring gene cyclin and CBS domain divalent metal cation transport mediator 1 Neighboring gene glutamic-oxaloacetic transaminase 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Human HPSE2 gene transfer ameliorates bladder pathophysiology in a mutant mouse model of urofacial syndrome.
    Title: Human HPSE2 gene transfer ameliorates bladder pathophysiology in a mutant mouse model of urofacial syndrome.
  2. Nuclear localization of heparanase 2 (Hpa2) attenuates breast carcinoma growth and metastasis.
    Title: Nuclear localization of heparanase 2 (Hpa2) attenuates breast carcinoma growth and metastasis.
  3. Effect of HPSE and HPSE2 SNPs on the Risk of Developing Primary Paraskeletal Multiple Myeloma.
    Title: Effect of HPSE and HPSE2 SNPs on the Risk of Developing Primary Paraskeletal Multiple Myeloma.
  4. Heparanase 2 (Hpa2) attenuates the growth of human sarcoma.
    Title: Heparanase 2 (Hpa2) attenuates the growth of human sarcoma.
  5. Induction of heparanase 2 (Hpa2) expression by stress is mediated by ATF3.
    Title: Induction of heparanase 2 (Hpa2) expression by stress is mediated by ATF3.
  6. Role of heparanase 2 (Hpa2) in gastric cancer.
    Title: Role of heparanase 2 (Hpa2) in gastric cancer.
  7. Heparanase 2 (Hpa2) attenuates tumor growth by inducing Sox2 expression.
    Title: Heparanase 2 (Hpa2) attenuates tumor growth by inducing Sox2 expression.
  8. Heparanase 2 (Hpa2) attenuates the growth of pancreatic carcinoma.
    Title: Heparanase 2 (Hpa2) attenuates the growth of pancreatic carcinoma.
  9. Hypermethylation of heparanase 2 promotes colorectal cancer proliferation and is associated with poor prognosis.
    Title: Hypermethylation of heparanase 2 promotes colorectal cancer proliferation and is associated with poor prognosis.
  10. Heparanase-2 protects from LPS-mediated endothelial injury by inhibiting TLR4 signalling.
    Title: Heparanase-2 protects from LPS-mediated endothelial injury by inhibiting TLR4 signalling.
Submit: New GeneRIF Correction See all GeneRIFs (37)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Urofacial syndrome type 1
MedGen: CN033872 OMIM: 236730 GeneReviews: Urofacial Syndrome
Compare labs

EBI GWAS Catalog

Description
A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci.
EBI GWAS Catalog
Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.
EBI GWAS Catalog
Genome-wide meta-analysis identifies new susceptibility loci for migraine.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog
Rank-based genome-wide analysis reveals the association of ryanodine receptor-2 gene variants with childhood asthma among human populations.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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 cell population proliferation IEA
Inferred from Electronic Annotation
more info
  
involved_in extracellular matrix organization IBA
Inferred from Biological aspect of Ancestor
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
  
located_in extracellular matrix IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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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_023416.2 RefSeqGene

    Range
    85099..863874
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    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/TrEMBL
    B3KSN9
    Related
    ENSP00000359580.1, ENST00000370549.5
    Conserved Domains (1) summary
    pfam03662
    Location:213 → 350
    Glyco_hydro_79n; Glycosyl hydrolase family 79, N-terminal domain

  2. NM_001166245.1 → NP_001159717.1  inactive heparanase-2 isoform 3 precursor

    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/TrEMBL
    B3KSN9
    Related
    ENSP00000485916.1, ENST00000628193.2
    Conserved Domains (1) summary
    pfam03662
    Location:159 → 296
    Glyco_hydro_79n; Glycosyl hydrolase family 79, N-terminal domain

  3. NM_001166246.1 → NP_001159718.1  inactive heparanase-2 isoform 4 precursor

    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/TrEMBL
    B2RBQ0, Q2M1H9
    Related
    ENSP00000359577.1, ENST00000370546.5
    Conserved Domains (1) summary
    pfam03662
    Location:208 → 408
    Glyco_hydro_79n; Glycosyl hydrolase family 79, N-terminal domain

  4. NM_021828.5 → NP_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
    Q5VUH4, Q5VUH5, Q5VUH6, Q8WWQ1, Q8WWQ2, Q9HB37, Q9HB38, Q9HB39
    UniProtKB/TrEMBL
    B2RBQ0
    Related
    ENSP00000359583.3, ENST00000370552.8
    Conserved Domains (1) summary
    pfam03662
    Location:208 → 408
    Glyco_hydro_79n; Glycosyl hydrolase family 79, N-terminal domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    98457077..99315951 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047425614.1 → XP_047281570.1  inactive heparanase-2 isoform X4

  2. XM_011540030.2 → XP_011538332.1  inactive heparanase-2 isoform X2

    UniProtKB/TrEMBL
    B2RBQ0
    Conserved Domains (1) summary
    pfam03662
    Location:154 → 354
    Glyco_hydro_79n; Glycosyl hydrolase family 79, N-terminal domain

  3. XM_011540029.1 → XP_011538331.1  inactive heparanase-2 isoform X1

    UniProtKB/TrEMBL
    B2RBQ0, Q2M1H9
    Conserved Domains (1) summary
    pfam03662
    Location:208 → 408
    Glyco_hydro_79n; Glycosyl hydrolase family 79, N-terminal domain

  4. XM_024448119.2 → XP_024303887.1  inactive heparanase-2 isoform X4

    UniProtKB/TrEMBL
    A0A0A0MSB9
    Conserved Domains (1) summary
    pfam03662
    Location:36 → 236
    Glyco_hydro_79n; Glycosyl hydrolase family 79, N-terminal domain

  5. XM_017016498.2 → XP_016871987.1  inactive heparanase-2 isoform X6

    UniProtKB/TrEMBL
    A0A0A0MSB9
    Related
    ENSP00000384384.2, ENST00000404542.5
    Conserved Domains (1) summary
    pfam03662
    Location:3 → 140
    Glyco_hydro_79n; Glycosyl hydrolase family 79, N-terminal domain

  6. XM_011540031.2 → XP_011538333.1  inactive heparanase-2 isoform X4

    See identical proteins and their annotated locations for XP_011538333.1

    UniProtKB/TrEMBL
    A0A0A0MSB9
    Conserved Domains (1) summary
    pfam03662
    Location:36 → 236
    Glyco_hydro_79n; Glycosyl hydrolase family 79, N-terminal domain

  7. XM_017016497.2 → XP_016871986.1  inactive heparanase-2 isoform X4

    UniProtKB/TrEMBL
    A0A0A0MSB9
    Conserved Domains (1) summary
    pfam03662
    Location:36 → 236
    Glyco_hydro_79n; Glycosyl hydrolase family 79, N-terminal domain

  8. XM_047425616.1 → XP_047281572.1  inactive heparanase-2 isoform X6

  9. XM_017016496.3 → XP_016871985.1  inactive heparanase-2 isoform X3

  10. XM_047425615.1 → XP_047281571.1  inactive heparanase-2 isoform X5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    99337053..100197827 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054366518.1 → XP_054222493.1  inactive heparanase-2 isoform X4

  2. XM_054366515.1 → XP_054222490.1  inactive heparanase-2 isoform X2

  3. XM_054366514.1 → XP_054222489.1  inactive heparanase-2 isoform X1

  4. XM_054366517.1 → XP_054222492.1  inactive heparanase-2 isoform X4

  5. XM_054366523.1 → XP_054222498.1  inactive heparanase-2 isoform X6

  6. XM_054366520.1 → XP_054222495.1  inactive heparanase-2 isoform X4

  7. XM_054366519.1 → XP_054222494.1  inactive heparanase-2 isoform X4

  8. XM_054366522.1 → XP_054222497.1  inactive heparanase-2 isoform X6

  9. XM_054366516.1 → XP_054222491.1  inactive heparanase-2 isoform X3

  10. XM_054366521.1 → XP_054222496.1  inactive heparanase-2 isoform X5

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8WWQ2.3 GenPept UniProtKB/Swiss-Prot:Q8WWQ2

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