HSPG2 Gene
protein-coding GIFtS : 69
GCID: GC01 M022148
heparan sulfate proteoglycan 2 (Previous name: Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)... ) (Previous symbol: SJS1 )
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Aliasesfor HSPG2 gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases Heparan Sulfate Proteoglycan 2 1 2 Perlecan3 SJS11 2 5 Schwartz-Jampel Syndrome 1 (Chondrodystrophic Myotonia)1 PLC2 3 5 Basement Membrane-Specific Heparan Sulfate Proteoglycan Core Protein2 PRCAN1 2 Endorepellin (Domain V Region)2 HSPG2 3 Perlecan Proteoglycan2 SJA2 5 Perlecan3 SJS2 5
Export aliases for HSPG2 gene to outside databases Previous GC identifers: GC01M021719 GC01M021183 GC01M021294 GC01M021619 GC01M021620 GC01M021894 GC01M022021 GC01M020392
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Summariesfor HSPG2 gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
PharmGKB ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section Entrez Gene summary for HSPG2 : This gene encodes the perlecan protein, which consists of a core protein to which three long chains of glycosaminoglycans (heparan sulfate or chondroitin sulfate) are attached. The perlecan protein is a large multidomain proteoglycan that binds to and cross-links many extracellular matrix components and cell-surface molecules. It has been shown that this protein interacts with laminin, prolargin, collagen type IV, FGFBP1, FBLN2, FGF7 and Transthyretin, etc. and plays essential roles in multiple biological activities. Perlecan is a key component of the vascular extracellular matrix, where it helps to maintain the endothelial barrier function. It is a potent inhibitor of smooth muscle cell proliferation and is thus thought to help maintain vascular homeostasis. It can also promote growth factor (e.g., FGF2) activity and thus stimulate endothelial growth and re-generation. It is a major component of basement membranes, where it is involved in the stabilization of other molecules as well as being involved with glomerular permeability to macromolecules and cell adhesion. Mutations in this gene cause Schwartz-Jampel syndrome type 1, Silverman-Handmaker type of dyssegmental dysplasia, and Tardive dyskinesia.(provided by RefSeq, Mar 2010) UniProtKB/Swiss-Prot: PGBM_HUMAN, P98160 Function : Integral component of basement membranes. Component of the glomerular basement membrane (GBM), responsiblefor 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 Function : Endorepellin in an anti-angiogenic and anti-tumor peptide that inhibits endothelial cell migration,collagen-induced endothelial tube morphogenesis and blood vessel growth in the chorioallantoic membrane. Blocks endothelial cell adhesion to fibronectin and type I collagen. Anti-tumor agent in neovascularization. Interaction with its ligand, integrin alpha2/beta1, is required for the anti-angiogenic properties. Evokes a reduction in phosphorylation of receptor tyrosine kinases via alpha2/beta1 integrin-mediated activation of the tyrosine phosphatase, PTPN6 Function : The LG3 peptide has anti-angiogenic properties that require binding of calcium ions for full activityGene Wiki entry for HSPG2 (Perlecan)
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Genomic Viewsfor HSPG2 gene
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 37) ,
and/or miRBase ,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69) ,
Regulatory elements and Epigenetics data according to
QIAGEN ,
SABiosciences , and/or
SwitchGear Genomics )About This Section RefSeq DNA sequence: NC_000001.10 NC_018912.1 NT_004610.19 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the HSPG2 gene promoter: Egr-3 Elk-1 AML1a Tal-1 POU3F1 E47 MZF-1 N-Myc ARP-1 Msx-1 Other transcription factors Search SABiosciences Chromatin IP Primers for HSPG2 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HSPG2
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 1p36.1-p34 Ensembl cytogenetic band: 1p36.12 HGNC cytogenetic band: 1p36.1-p35 HSPG2 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome 1 GeneLoc Exon Structure
GeneLoc location for GC01M022148: view genomic region
(about GC identifiers )
Start:
22,148,737 bp from pter
End:
22,263,790 bp from pter
Size:
115,054 bases
Orientation:
minus strand
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Proteinsfor HSPG2 gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
Specific Peptides from DME ,
Protein expression images according to data from SPIRE MOPED and PaxDb ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from
EMD Millipore ,
R&D Systems ,
GenScript ,
Enzo Life Sciences ,
OriGene ,
Novus Biologicals ,
Sino Biological ,
ProSpec , and/or
Uscn ,
Biochemical Assays by
EMD Millipore ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene ,
Antibodies by
EMD Millipore ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals ,
Thermo Fisher Scientific ,
Abcam , and/or
Uscn )
About This Section UniProtKB/Swiss-Prot: PGBM_HUMAN, P98160 (See
protein sequence )Recommended Name: Basement membrane-specific heparan sulfate proteoglycan core protein precursor Size : 4391 amino acids; 468830 Da
Subunit : Purified perlecan has a strong tendency to aggregate in dimers or stellate structures. It interacts with otherbasement membrane components such as laminin, prolargin and collagen type IV. Interacts with COL13A1, FGFBP1 and VWA1. Interacts (via C-terminus) with ECM1 (via C-terminus)
Subcellular location : Secreted, extracellular space, extracellular matrix, basement membrane
Miscellaneous : The LG3 peptide has been found in the urine of patients with end-stage renal disease and in the amnioticfluid of pregnant women with premature rupture of fetal membranes
2 PDB 3D structures from and Proteopedia for HSPG2 :3SH4 (3D)
  3SH5 (3D)
 
Secondary accessions : Q16287 Q5SZI3 Q9H3V5Explore the universe of human proteins at neXtProt for HSPG2: NX_P98160 Post-translational modifications:
Proteolytic processing produces the C-terminal angiogenic peptide, endorepellin. This peptide can be further processed to produce the LG3 peptide1
N- and O-glycosylated. O-glycosylated with core 1 or possibly core 8 glycans. Perlecan contains three heparan sulfate chains. The LG3 peptide contains at least three and up to five potential O-glycosylation sites but no N-glycosylation1
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_P98160 HSPG2 Protein expression data from MOPED and PaxDb : About this image
REFSEQ proteins: NP_005520.4 ENSEMBL proteins: ENSP00000363827 ENSP00000392022 ENSP00000363808 ENSP00000396310 ENSP00000397573 ENSP00000436271 ENSP00000405412 ENSP00000363805 ENSP00000395884 ENSP00000416385 Reactome Protein details: P98160 Human Recombinant Protein Products: Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10 ): About this table
HSPG2 for ontologies About GeneDecksing HSPG2 Antibody Products: Assay Products for HSPG2:
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Protein
Domains / Familiesfor HSPG2 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
HSPG2 for domains About GeneDecksing 5/15 InterPro domains/families (see all 15 ):
Graphical View of Domain Structure for InterPro Entry P98160 ProtoNet protein and cluster: P98160
5/12 Blocks protein families (see all 12 ): IPB000082 SEA domain IPB001438 Type II EGF-like signature IPB001791 Laminin G IPB002049 Laminin-type EGF-like domain IPB002172 Low density lipoprotein-receptor UniProtKB/Swiss-Prot: PGBM_HUMAN, P98160 Similarity : Contains 4 EGF-like domainsSimilarity : Contains 22 Ig-like C2-type (immunoglobulin-like) domainsSimilarity : Contains 11 laminin EGF-like domainsSimilarity : Contains 3 laminin G-like domainsSimilarity : Contains 3 laminin IV type A domainsSimilarity : Contains 4 LDL-receptor class A domainsSimilarity : Contains 1 SEA domain
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Functionfor HSPG2 gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences ,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene ,
RNAi from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
microRNA from QIAGEN ,
Gene Editing from DNA2.0 ,
Clones from EMD Millipore ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
Sino Biological ,
DNA2.0 ,
and Vector BioLabs ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene .)
About This Section Function Summary: UniProtKB/Swiss-Prot: PGBM_HUMAN, P98160 Function : Integral component of basement membranes. Component of the glomerular basement membrane (GBM), responsiblefor 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 Function : Endorepellin in an anti-angiogenic and anti-tumor peptide that inhibits endothelial cell migration,collagen-induced endothelial tube morphogenesis and blood vessel growth in the chorioallantoic membrane. Blocks endothelial cell adhesion to fibronectin and type I collagen. Anti-tumor agent in neovascularization. Interaction with its ligand, integrin alpha2/beta1, is required for the anti-angiogenic properties. Evokes a reduction in phosphorylation of receptor tyrosine kinases via alpha2/beta1 integrin-mediated activation of the tyrosine phosphatase, PTPN6 Function : The LG3 peptide has anti-angiogenic properties that require binding of calcium ions for full activity
Genatlas biochemistry entry for HSPG2 : heparan sulfate proteoglycan 2 (64kDa),basement membrane,syndecan family,linking the cytoskeleton to interstitial matrix Clone Products: Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for HSPG2 OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for HSPG2OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: HSPG2 (NM_005529 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for HSPG2 Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat HSPG2
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HSPG2
Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view) : About this table
HSPG2 for ontologies About GeneDecksing 2 GenomeRNAi human phenotypes for HSPG2 :Animal Models: Mouse knock-outs for HSPG2: Hspg2 tm1Nid Hspg2 tm1Soin Hspg2 tm1Ref 15/21 MGI mutant phenotypes (inferred from 7 alleles ) (MGI details for Hspg2) (see all 21 ):
HSPG2 for phenotypes About GeneDecksing
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Pathways & Interactionsfor HSPG2 gene
(Pathways according to
EMD Millipore ,
R&D Systems ,
Cell Signaling Technology ,
KEGG ,
PharmGKB ,
BioSystems ,
Reactome ,
Tocris Bioscience ,
GeneGo (Thomson Reuters) ,
QIAGEN ,
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Interaction Networks according to
SABiosciences ,
and/or STRING ,
Interactions according to 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene) .
About This Section Unified GeneCards pathways  - 5/17 super-pathways (see all 17 ) About this table See pathways by source Super-pathway contained gene-specific pathways 1 MPS IIIC - Sanfilippo syndrome C 2 Integrin Pathway 3 Rho Family GTPases 4 Lipoprotein metabolism 5 Retinoid metabolism and transport
Pathway sources See GeneCards unified pathways Show all pathways 2 EMD Millipore Pathways for HSPG2 5/15 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for HSPG2 (see all 15 )2 GeneGo (Thomson Reuters) Pathways for HSPG2 5/32
Reactome Pathways for HSPG2 (see all 32 )1
Kegg Pathway (Kegg details for HSPG2) :
HSPG2 for pathways About GeneDecksing Interactions: SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for HSPG2 STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)5/139 Interacting proteins for HSPG2 (P98160 2 , 3 ENSP00000363827 4 ) via UniProtKB, MINT, STRING , and/or I2D (see all 139 )About this table Gene Ontology (GO): 5/17 biological process terms (GO ID links to tree view) (see all 17 ): About this table
GO ID Qualified GO term Evidence PubMed IDs GO:0001525 angiogenesis
IEA -- GO:0001958 endochondral ossification
IEA -- GO:0002062 chondrocyte differentiation
IEA -- GO:0005975 carbohydrate metabolic process
TAS -- GO:0006024 glycosaminoglycan biosynthetic process
TAS --
HSPG2 for ontologies About GeneDecksing
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Drugs & Compoundsfor HSPG2 gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
EMD Millipore , Tocris Bioscience
HMDB ,
BitterDB , and/or
Novoseek , and Drugs according to
DrugBank ,
Enzo Life Sciences , and/or
PharmGKB , with drugs/clinical trials/news
search links to CenterWatch )
About This Section
HSPG2 for compounds About GeneDecksing Browse Tocris compounds for HSPG2 2 HMDB Compounds for HSPG2 About this table 1 DrugBank Compound for HSPG2 About this table 10/137 Novoseek chemical compound relationships for HSPG2 gene (see all 137 ) About this table
Compound
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
pl-cs
88.1
12
17526847 (2), 1613975 (1), 19541386 (1), 2128277 (1) (see all 9 )
inositol 1,4,5 trisphosphate
88.1
129
9886839 (2), 17910604 (2), 2163545 (1), 1833464 (1) (see all 99 )
pip2
85.8
79
8388752 (4), 18528787 (3), 19019830 (3), 1313007 (3) (see all 44 )
phosphoinositide
83.2
101
2061301 (3), 8613709 (2), 10820192 (2), 7965720 (2) (see all 67 )
u 73122
78
11
11071123 (1), 17680988 (1), 18237278 (1), 11424083 (1) (see all 9 )
calcium
77.7
654
9827580 (5), 8759520 (5), 9685212 (5), 1651335 (4) (see all 99 )
phosphatidylinositol
76.1
118
15234221 (2), 7961710 (2), 11557588 (2), 1327153 (2) (see all 66 )
1,2-diacylglycerol
74.9
33
8209783 (2), 8392931 (2), 15108061 (2), 8428917 (2) (see all 14 )
aminosteroid
72.9
6
7593299 (1), 8158247 (1), 9133633 (1), 8247012 (1) (see all 6 )
phosphatidyl ethanol
72.8
6
8898346 (1), 8355574 (1), 9783907 (1), 8455209 (1)
Search CenterWatch for drugs/clinical trials and news about HSPG2 / PGBM
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Transcriptsfor HSPG2 gene (Secondary structures according to
fRNAdb ,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
shRNA from
OriGene ,
microRNA from QIAGEN ,
Tagged/untagged cDNA clones from
OriGene ,
SwitchGear Genomics ,
GenScript ,
DNA2.0 ,
Vector BioLabs ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN
)About This Section REFSEQ mRNAs for HSPG2 gene: NM_005529.5 Unigene Cluster for HSPG2:
Heparan sulfate proteoglycan 2 Hs.562227 [show with all ESTs ] Unigene Representative Sequence: M85289 16 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000486901 (uc001bfi.3 ) ENST00000374695 (uc009vqe.1 uc001bfj.3 uc009vqd.3 )ENST00000481644 ENST00000469378 ENST00000426143 ENST00000471322 ENST00000374676 ENST00000453796 ENST00000493940 ENST00000427897 ENST00000498495 ENST00000480900 ENST00000412328 ENST00000374673 ENST00000439717 ENST00000430507 Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for HSPG2 OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for HSPG2OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: HSPG2 (NM_005529 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for HSPG2 Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat HSPG2
Additional cDNA sequence: AB209851.1 AF479675.1 BC033152.1 BC109204.1 M64283.1 M85289.1 S76436.1 X62515.1
23 DOTS entries : DT.97794852 DT.117676
DT.99943960 DT.100726160 DT.95321264 DT.97791668 DT.91673210 DT.99929478 DT.100790475 DT.40215860 DT.95203868 DT.95370971 DT.100042969 DT.121425196 DT.121425213 DT.86849248 DT.91762524 DT.95203873 DT.100044636 DT.100786383 DT.121425128 DT.95137172 DT.95203857 5 AceView cDNA sequences :
AA143738 BF872762 AA093907 R26043 AA143725 GeneLoc Exon Structure
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Expression for HSPG2 gene
(RNA expression data according to
H-InvDB ,
NONCODE ,
miRBase , and
RNAdb ,
Expression images according to data from
BioGPS ,
Illumina Human BodyMap , and
CGAP
SAGE ,
Sets of similar genes according to GeneDecks ,
in vivo and in vitro expression data from LifeMap Discovery™ ,
plus additional links to
Genevestigator , and/or
SOURCE , and/or
BioGPS , and/or
UniProtKB ,
PCR Arrays from
SABiosciences ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN ,
In Situ Hybridization Assays from Advanced Cell Diagnostics )
About This Section HSPG2 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: CCACCCTCAC
About this image HSPG2 expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table 1 LifeMap In Vivo Development Anatomical Compartment/Cell Tissue Anatomical Compartment
Cell Category (developmental path) Heart Endocardium Endocardial Tube Cells Endocardium Expression: Positive Negative
Selective markerExperimental details:
Curated
Microarrays
In-situ hybridization
See HSPG2 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for HSPG2 SOURCE GeneReport for Unigene cluster: Hs.562227 UniProtKB/Swiss-Prot: PGBM_HUMAN, P98160 Tissue specificity : Found in the basement membranes SABiosciences Custom PCR Arrays for HSPG2 Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for HSPG2Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat HSPG2 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat HSPG2 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat HSPG2 In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HSPG2
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Orthologsfor HSPG2 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section
This gene was present in the common ancestor of animals.
Orthologs for HSPG2 gene from 6/17 species (see all 17 ) About this table
Organism
Taxonomic classification
Gene
Description
Human Similarity
Orthology Type
Details
chicken (Gallus gallus)
Aves
HSPG21
heparan sulfate proteoglycan 2
63.94(n) 58.71(a)
 
429806 NM_001001876.1 NP_001001876.1
lizard (Anolis carolinensis)
Reptilia
HSPG26 HSPG26
--
55(a) 34(a)
1 ↔ 1possible ortholog
AAWZ02038048(552-10218) AAWZ02037520(1035-15339)
African clawed frog (Xenopus laevis)
Amphibia
Xl.220442
Xenopus laevis transcribed sequence with weak similarity more
75.13(n)
 
BG729944.1
zebrafish (Danio rerio)
Actinopterygii
hspg21
heparan sulfate proteoglycan 2
57.14(n) 53.48(a)
 
565429 XM_003201208.1 XP_003201256.1
fruit fly (Drosophila melanogaster)
Insecta
EG:BACR25B3.13
--
35(a) (best of 2)
 
--
worm (Caenorhabditis elegans)
Secernentea
unc-521 , 3
Expression: muscle, mu_bod, pharynx, pharyngo-intestinal more 3 Protein UNC-521
35(a) 3 41.76(n) 1 30.34(a) 1
 
II(14643132-14662505)3 175126 1 NM_064643.7 1 NP_497044.3 1
ENSEMBL Gene Tree for HSPG2 (if available)TreeFam Gene Tree for HSPG2 (if available)
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Paralogsfor HSPG2 gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for HSPG2 gene VCAM1 2 IGSF10 2 HMCN1 2 ENSG00000215428 2 PTK7 2 HMCN2 2 MXRA5 2 18/19 SIMAP similar genes for HSPG2 using alignment to 13 protein entries: PGBM_HUMAN (see all proteins )
(see all similar genes ):F9 LRP4 PXDN LAMA3 CNTN5 LamA3 MUSK PXDNL CHL1 IGDCC3 HMCN2 LAMA4 VLDLR CNTN2 HMCN1 EYS AGRN LAMB4
HSPG2 for paralogs About GeneDecksing 1 Pseudogenes.org Pseudogene for HSPG2 PGOHUM00000237621
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Genomic Variantsfor HSPG2 gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
UniProtKB , and
DNA2.0 ,
Linkage Disequilibrium by HapMap ,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants , Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB) , Blood group antigen gene mutations by BGMUT ,
Resequencing Primers from QIAGEN ,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences )
About This Section
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical significance Chr 1 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for HSPG2 (22148737 - 22263790 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 7 variations for HSPG2 7 CNVs : 4216 29831 4215 3286 2045 47845 29830 Human Gene Mutation Database (HGMD) : HSPG2 SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing HSPG2
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Disorders
/ Diseasesfor HSPG2 gene
(in which this Gene is Involved, According to MalaCards ,
OMIM, UniProtKB ,
the University of Copenhagen DISEASES
database , Novoseek ,
Genatlas , GeneTests ,
GAD ,
HuGE Navigator ,
and/or TGDB .)
About This Section
HSPG2 for disorders About GeneDecksing OMIM gene information: 142461 OMIM disorders : 255800 224410 UniProtKB/Swiss-Prot: PGBM_HUMAN, P98160
Defects in HSPG2 are the cause of Schwartz-Jampel syndrome (SJS1) [MIM:255800]; a rare autosomal recessive disorder characterized by permanent myotonia (prolonged failure of muscle relaxation) and skeletal dysplasia, resulting in reduced stature, kyphoscoliosis, bowing of the diaphyses and irregular epiphyses Defects in HSPG2 are the cause of dyssegmental dysplasia Silverman-Handmaker type (DDSH) [MIM:224410]. The dyssegmental dysplasias are rare, autosomal recessive skeletal dysplasias with anisospondyly and micromelia. There are two recognized types: the severe, lethal DDSH and the milder Rolland-Desbuquois form. Individuals with DDSH also have a flat face, micrognathia, cleft palate and reduced joint mobility, and frequently have an encephalocoele. The endochondral growth plate is short, the calcospherites (which are spherical calcium-phosphorus crystals produced by hypertrophic chondrocytes) are unfused, and there is mucoid degeneration of the resting cartilage 20/169 diseases for HSPG2 (see all 169 ): About MalaCards schwartz-jampel syndrome schwartz jampel syndrome type 1 dyssegmental dysplasia silverman-handmaker type dyssegmental dysplasia tardive dyskinesia toxic epidermal necrolysis stevens-johnson syndrome myotonia gas gangrene mixed connective tissue disease pthirus pubis infestation connective tissue disease keratoconjunctivitis sicca sjogren-larsson syndrome dry eye syndrome spinal muscular atrophy mitral valve prolapse multinodular goiter empty sella syndrome hypersensitivity reaction type ii disease 12 diseases from the University of Copenhagen DISEASES database for HSPG2 :Stevens-Johnson syndrome Mixed connective tissue disease Sjogren's syndrome Dry eye syndrome Erythema multiforme Dermatomyositis Systemic scleroderma Dacryoadenitis Hyperglobulinemic purpura Conjunctival degeneration Systemic lupus erythematosus Keratoconjunctivitis 10/91 Novoseek disease relationships for HSPG2 gene (see all 91 ) About this table
Disease
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
dyssegmental dysplasia, silverman-handmaker type
76.1
2
11941538 (1), 11279527 (1)
sjogrens syndrome
69.3
51
2287968 (1), 1920970 (1), 1379949 (1), 8679304 (1) (see all 45 )
annular erythema
52
11
9649694 (2), 2071745 (2), 9563275 (2), 8531373 (1)
sjogrens syndrome primary
50.4
11
9890678 (1), 1857996 (1), 9884552 (1), 11206359 (1) (see all 11 )
schwartz-jampel syndrome
46.9
3
11038441 (1), 11941538 (1), 16927315 (1)
gas gangrene
42.5
3
10950774 (1), 16585634 (1), 18160514 (1)
xerostomia
40.1
10
19254127 (1), 19260540 (1), 16221495 (1), 9311000 (1) (see all 7 )
mixed connective tissue disease
39.9
6
8101109 (1), 2222196 (1), 2050902 (1), 8144128 (1) (see all 6 )
keratoconjunctivitis sicca
38.9
3
19260540 (1), 16918699 (1)
cholera
37.4
4
10542136 (2), 14715548 (1), 1707924 (1)
Genetic Association Database (GAD): HSPG2 Human Genome Epidemiology (HuGE) Navigator: HSPG2 (18 documents) Export disorders for HSPG2 gene to outside databases
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Publicationsfor HSPG2 gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
About This Section PubMed articles for HSPG2 gene, integrated from 9 sources (see all 1224 ): (articles sorted by number of sources associating them with HSPG2) Utopia : connect your pdf to the dynamic world of online information
Cloning of human heparan sulfate proteoglycan core protein, assignment of the gene (HSPG2) to 1p36.1-->p35 and identification of a BamHI restriction fragment length polymorphism. (PubMed id 1685141) 1 , 2 , 3 Kallunki P....Tryggvason K. (1991) An association study of a polymorphism in the heparan sulfate proteoglycan gene (perlecan, HSPG2) and Alzheimer's disease. (PubMed id 15211644) 1 , 4, 9 Rosenmann H....Abramsky O. (2004) Endorepellin, a novel inhibitor of angiogenesis derived from the C terminus of perlecan. (PubMed id 12435733) 1 , 2 , 9 Mongiat M.... Iozzo R.V. (2003) Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia. (PubMed id 11941538) 1 , 3, 9 Arikawa-Hirasawa E....Yamada Y. (2002) Dyssegmental dysplasia, Silverman-Handmaker type, is caused by functional null mutations of the perlecan gene. (PubMed id 11279527) 1 , 2 , 9 Arikawa-Hirasawa E.... Yamada Y. (2001) Role of tyrosine phosphatase SHP-1 in the mechanism of endorepellin angiostatic activity. (PubMed id 19789387) 1 , 2 Nystrom A.... Iozzo R.V. (2009) Integrin alpha2beta1 is the required receptor for endorepellin angiostatic activity. (PubMed id 18024432) 1 , 2 Woodall B.P....Iozzo R.V. (2008) Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952) 1 , 2 Liu T.... Smith R.D. (2005) BMP-1/Tolloid-like metalloproteases process endorepellin, the angiostatic C-terminal fragment of perlecan. (PubMed id 15591058) 1 , 2 Gonzalez E.M.... Iozzo R.V. (2005) Lack of association between perlecan gene intron 6 BamHI polymorphism and risk of mitral valve prolapse in Taiwan Chinese. (PubMed id 14973356) 1 , 4 Chou H.T....Tsai F.J. (2004)
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External Searches for HSPG2 gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing HSPG2 gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
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Other Databases showing HSPG2 gene
(According to HUGE )
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Specialized Databases showing HSPG2 gene (According to PharmGKB ,
ATLAS , HORDE , IMGT , LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
Name Description
PharmGKB entry for HSPG2 Pharmacogenomics, SNPs, Pathways ATLAS Chromosomes in Cancer entry for HSPG2 Genetics and Cytogenetics in Oncology and Haematology Wikipedia http://en.wikipedia.org/wiki/Perlecan GeneReviews http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HSPG2
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About This Section Patent Information for HSPG2 gene: Search GeneIP for patents involving HSPG2 GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor HSPG2 gene (Antibodies, recombinant proteins, and assays from EMD Millipore , R&D Systems , OriGene , QIAGEN , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Sino Biological , Enzo Life Sciences , Abcam , ProSpec , Uscn , Thermo Fisher Scientific , Gene Editing from DNA2.0 , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , Cell lines from GenScript and LifeMap BioReagents , PCR Arrays from SABiosciences , Drugs and/or compounds from EMD Millipore , Tocris Bioscience , and/or
Enzo Life Sciences ), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
Browse OriGene Antibodies OriGene shRNA RFP for HSPG2 OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for HSPG2 OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for HSPG2 OriGene Protein Over-expression Lysate for HSPG2 Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for HSPG2 OriGene 3'-UTR Clone for HSPG2 OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for HSPG2 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for HSPG2 Browse OriGene GFP tagged cDNA clones in CMV expression vector Browse OriGene MicroRNA Expression Plasmids Browse OriGene basic RS shRNAs Browse OriGene validated miRNA SYBR primer pairs Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for HSPG2 OriGene Custom Protein Services for HSPG2 OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat HSPG2 QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing HSPG2 QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HSPG2 QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat HSPG2 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat HSPG2 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat HSPG2
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HSPG2 Proteins, Antibodies, CLIAs, and ELISAs
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HSPG2
ThermoFisher Antibodies for HSPG2
Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat HSPG2
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