HPSE2 heparanase 2 (inactive)
Gene ID: 60495, updated on 3-Apr-2024Gene type: protein coding
Also known as: UFS; HPA2; HPR2; UFS1
- See all available tests in GTR for this gene
- Go to complete Gene record for HPSE2
- Go to Variation Viewer for HPSE2 variants
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]
Associated conditions
See all available tests in GTR for this gene
| 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 type 1 | See labs |
Genomic context
- Location:
- 10q24.2
- Sequence:
- Chromosome: 10; NC_000010.11 (98457077..99315951, complement)
- Total number of exons:
- 18
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for HPSE2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- HPSE2 database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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