HPSE2 (heparanase 2 (inactive))

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 60495
Gene name Heparanase 2 (inactive)
Gene symbol HPSE2
Synonyms (NCBI Gene)
HPA2HPR2UFSUFS1
Chromosome 10
Chromosome location 10q24.2
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
SNPs SNP information provided by dbSNP.
7
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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SNP ID Visualize variation Clinical significance Consequence
rs267606864 G>A,C Pathogenic Missense variant, coding sequence variant, genic downstream transcript variant, stop gained, non coding transcript variant
rs267606865 G>A Pathogenic Coding sequence variant, stop gained, non coding transcript variant, 5 prime UTR variant, intron variant
rs267606866 G>A Pathogenic Coding sequence variant, genic downstream transcript variant, stop gained, non coding transcript variant, intron variant
rs397515338 TT>- Pathogenic Coding sequence variant, non coding transcript variant, genic downstream transcript variant, frameshift variant
rs397515452 T>A Pathogenic Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant, 3 prime UTR variant
miRNA miRNA information provided by mirtarbase database.
87
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT1054377 hsa-miR-1266 CLIP-seq
MIRT1054378 hsa-miR-15a CLIP-seq
MIRT1054379 hsa-miR-15b CLIP-seq
MIRT1054380 hsa-miR-16 CLIP-seq
MIRT1054381 hsa-miR-195 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
BTF3 Activation 17312387
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0005576 Component Extracellular region IEA
GO:0005615 Component Extracellular space IBA
GO:0005886 Component Plasma membrane TAS
GO:0008283 Process Cell population proliferation IEA
GO:0008284 Process Positive regulation of cell population proliferation IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
613469 18374 ENSG00000172987
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8WWQ2
Protein name Inactive heparanase-2 (Hpa2)
Protein function Binds heparin and heparan sulfate with high affinity, but lacks heparanase activity. Inhibits HPSE, possibly by competing for its substrates (in vitro).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03662 Glyco_hydro_79n 169 → 408 Glycosyl hydrolase family 79, N-terminal domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed, with the highest expression in brain, mammary gland, prostate, small intestine, testis and uterus. In the central nervous system, expressed in the spinal cord, caudate nucleus, thalamus, substantia nigra, medulla oblo
Sequence 
MRVLCAFPEAMPSSNSRPPACLAPGALYLALLLHLSLSSQAGDRRPLPVDRAAGLKEKTL
ILLDVSTKNPVRTVNENFLSLQLDPSIIHDGWLDFLSSKRLVTLARGLSPAFLRFGGKRT
DFLQFQNLRNPAKSRGGPGPDYYLKNYEDDIVRSDVALDKQKGCKIAQHPDVMLELQREK
AAQMHLVLLKEQFSNTYSNLILTARSLDKLYNFADCSGLHLIFALNALRRNPNNSWNSSS
ALSLLKYSASKKYNISWELGNEPNNYRTMHGRAVNGSQLGKDYIQLKSLLQPIRIYSRAS
LYGPNIGRPRKNVIALLDGFMKVAGSTVDAVTWQHCYIDGRVVKVMDFLKTRLLDTLSDQ
IRKIQKVVNTYTPGKKIWLEGVVTTSAGGTNNLSDSYAAGFLWLNTLGMLANQGIDVVIR
HSFFDHGYNHLVDQNFNPLPDYWLSLLYKRLIGPKVLAVHVAGLQRKPRPGRVIRDKLRI
YAHCTNHHNHNYVRGSITLFIINLHRSRKKIKLAGTLRDKLVHQYLLQPYGQEGLKSKSV
QLNGQPLVMVDDGTLPELKPRPLRAGRTLVIPPVTMGFYVVKNVNALACRYR
Sequence length 592
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Glycosaminoglycan degradation
Metabolic pathways
Proteoglycans in cancer 		  HS-GAG degradation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (4)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Congenital anomaly of kidney and urinary tract Pathogenic; Likely pathogenic rs2133986448, rs267606865 RCV001849621
RCV001849249
HPSE2-related disorder Pathogenic rs778121647 RCV003415594
Ochoa syndrome Pathogenic rs2133951833, rs184270108 RCV002254040
RCV002254043
Urofacial syndrome type 1 Pathogenic; Likely pathogenic rs2134250333, rs267606866, rs397515338, rs1469962264, rs267606864, rs267606865, rs778121647, rs2133951833, rs184270108, rs397515452 RCV001783434
RCV000000103
RCV000000104
RCV000000105
RCV000000108
RCV000000109
RCV000000110
RCV002502059
RCV002481060
RCV000054516
Show/Hide Unknown Diseases (2)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign; Likely benign rs72840396 RCV005913291
Gastric cancer Benign; Likely benign rs72840396 RCV005913292
Show/Hide Text Mining Associations (26)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 40419521
Bone Diseases Inhibit 36980254
Bone Diseases Associate 36980254
Breast Neoplasms Associate 26084486
Breast Neoplasms Stimulate 30922347
Cakut Associate 27151922
Cerebral Infarction Associate 18383324
Colorectal Neoplasms Associate 33663522
Depressive Disorder Associate 34972135
Disease Associate 36980254