HSPG2 gene homepage

General information
Gene symbol HSPG2
Gene name heparan sulfate proteoglycan 2
Chromosome 1
Chromosomal band p36.1-p35
Imprinted Unknown
Genomic reference NG_016740.1
Transcript reference NM_005529.5
Exon/intron information NM_005529.5 exon/intron table
Associated with diseases DDSH, SJS-1
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 209
Unique public DNA variants reported 181
Individuals with public variants 10
Hidden variants 67
Download all this gene's data Download all data
Notes Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created April 05, 2011
Date last updated June 05, 2018
Version HSPG2:180605

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_005529.5.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/HSPG2
External URL Orphanet
HGNC 5273
Entrez Gene 3339
PubMed articles HSPG2
OMIM - Gene 142461
OMIM - Diseases DDSH (dysplasia, dyssegmental, Silverman-Handmaker type (DDSH))
SJS-1 (syndrome, Schwartz-Jampel, type 1 (SJS-1))
HGMD HSPG2
GeneCards HSPG2
GeneTests HSPG2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000028 1 heparan sulfate proteoglycan 2 NM_005529.5 NP_005520.4 209


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