HPSE2 (heparanase 2 (inactive))

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
60495
Gene name Gene Name - the full gene name approved by the HGNC.
Heparanase 2 (inactive)
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HPSE2
Synonyms (NCBI Gene) Gene synonyms aliases
HPA2, HPR2, UFS, UFS1
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q24.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(7)
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.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(87)
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
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
BTF3 Activation 17312387
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(14)
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
613469 18374 ENSG00000172987
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Urofacial Syndrome Urofacial syndrome type 1 rs267606866, rs397515338, rs1469962264, rs267606864, rs267606865, rs778121647, rs397515452 N/A
Congenital anomalies of kidney and urinary tract Congenital anomaly of kidney and urinary tract rs267606865 N/A
Show/Hide Unknown Diseases (4)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Asthma (childhood onset) N/A N/A GWAS
Diabetes Type 2 diabetes N/A N/A GWAS
Neuroticism Neuroticism N/A N/A GWAS
Ochoa Syndrome Ochoa syndrome N/A N/A GenCC
Show/Hide Text Mining Associations (26)
Associations from Text Mining Disease 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