HPSE2 |
- 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
- 0.84(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
ClinGen Curation ID:
CCID:007298
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:
- urofacial syndrome type 1 Monarch
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)