• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
HPSE2 (HGNC:18374) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
heparanase 2 (inactive)
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
UFS
Alias symbols
HPA2, HPR2
%HI
3.52(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.69(Read more about gnomAD LOEUF score)
Cytoband
10q24.2
Genomic Coordinates
GRCh37/hg19: chr10:100216834-100995632 NCBI Ensembl UCSC
GRCh38/hg38: chr10:98457077-99315951 NCBI Ensembl UCSC
MANE Select Transcript
NM_021828.5 ENST00000370552.8 (Read more about MANE Select)
Function
Binds heparin and heparan sulfate with high affinity, but lacks heparanase activity. Inhibits HPSE, possibly by competing for its substrates (in vitro). {ECO:0000269|PubMed:20576607}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-36692
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
03/12/2015

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
HI Evidence Comments:
Variants in HPSE2 have been reported in individuals with Urofacial syndrome, an autosomal recessive disorder. Of note, homozygous intragenic deletions of HPSE2 have been identified in individuals with Urofacial syndrome (PMID:20560210).

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000010.10) (NC_000010.11)