HSPG2
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
HSPG2 (HGNC:5273) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
heparan sulfate proteoglycan 2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
SJS1
Alias symbols
perlecan, PRCAN
%HI
49.81(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.6(Read more about gnomAD LOEUF score)
Cytoband
1p36.12
Genomic Coordinates
GRCh37/hg19: chr1:22148737-22263803 NCBI Ensembl UCSC
GRCh38/hg38: chr1:21822244-21937310 NCBI Ensembl UCSC
MANE Select Transcript
NM_005529.7 ENST00000374695.8 (Read more about MANE Select)
Function
Integral component of basement membranes. Component of the glomerular basement membrane (GBM), responsible for the fixed negative electrostatic membrane charge, and which provides a barrier which is both size- and charge-selective. It serves as an attachment substrate for cells. Plays essential roles in vascularization. Critical for normal heart development and for regulating the vascular response to injury. Also required for avascular cartilage development. [Endorepellin]: Anti-angiogenic and a... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-21506
ClinGen Curation ID:
CCID:007305
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
06/02/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:

Triplosensitivity (TS) Score Details

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

Genomic View

Select assembly: (NC_000001.10) (NC_000001.11)