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

    Gene ID: 60495, updated on 2-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)

    Genotypes

    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 biological_process ND
    No biological Data available
    more info
    		  
    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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    NEW Try the new Transcript table

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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