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Aliases for HSPG2 Gene

Aliases for HSPG2 Gene

  • Heparan Sulfate Proteoglycan 2 2 3
  • PLC 3 4 6
  • Perlecan Proteoglycan 2 3
  • SJS1 3 6
  • HSPG 3 4
  • SJA 3 6
  • SJS 3 6
  • Basement Membrane-Specific Heparan Sulfate Proteoglycan Core Protein 3
  • Schwartz-Jampel Syndrome 1 (Chondrodystrophic Myotonia) 2
  • Endorepellin (Domain V Region) 3
  • Perlecan 4
  • PRCAN 3

External Ids for HSPG2 Gene

Previous Symbols for HSPG2 Gene

  • SJS1

Summaries for HSPG2 Gene

Entrez Gene Summary for HSPG2 Gene

  • 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 it 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. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014]

GeneCards Summary for HSPG2 Gene

HSPG2 (Heparan Sulfate Proteoglycan 2) is a Protein Coding gene. Diseases associated with HSPG2 include dyssegmental dysplasia, silverman-handmaker type and hyperglobulinemic purpura. Among its related pathways are Signaling by GPCR and Proteoglycans in cancer. GO annotations related to this gene include protein C-terminus binding. An important paralog of this gene is EGFLAM.

UniProtKB/Swiss-Prot for HSPG2 Gene

  • 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 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

  • The LG3 peptide has anti-angiogenic properties that require binding of calcium ions for full activity

Gene Wiki entry for HSPG2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HSPG2 Gene

Genomics for HSPG2 Gene

Genomic Location for HSPG2 Gene

Start:
21,822,244 bp from pter
End:
21,937,297 bp from pter
Size:
115,054 bases
Orientation:
Minus strand

Genomic View for HSPG2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HSPG2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HSPG2 Gene

Regulatory Elements for HSPG2 Gene

Proteins for HSPG2 Gene

  • Protein details for HSPG2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P98160-PGBM_HUMAN
    Recommended name:
    Basement membrane-specific heparan sulfate proteoglycan core protein
    Protein Accession:
    P98160
    Secondary Accessions:
    • Q16287
    • Q5SZI3
    • Q9H3V5

    Protein attributes for HSPG2 Gene

    Size:
    4391 amino acids
    Molecular mass:
    468830 Da
    Quaternary structure:
    • Purified perlecan has a strong tendency to aggregate in dimers or stellate structures. It interacts with other basement 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).
    Miscellaneous:
    • The LG3 peptide has been found in the urine of patients with end-stage renal disease and in the amniotic fluid of pregnant women with premature rupture of fetal membranes

    Three dimensional structures from OCA and Proteopedia for HSPG2 Gene

neXtProt entry for HSPG2 Gene

Proteomics data for HSPG2 Gene at MOPED

Post-translational modifications for HSPG2 Gene

  • 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-glycosylation.
  • Proteolytic processing produces the C-terminal angiogenic peptide, endorepellin. This peptide can be further processed to produce the LG3 peptide.
  • Modification sites at PhosphoSitePlus
  • Glycosylation at Thr42, Ser65, Ser71, Ser76, Asn89, Thr269, Ser279, Asn554, Ser914, Thr915, Asn1755, Asn2121, Thr2138, Ser2140, Thr2145, Ser2150, Thr2151, Ser2529, Ser2995, Asn3072, Asn3105, Thr3152, Asn3279, Ser3412, Asn3780, Asn3836, Ser3933, Asn4068, and Ser4179

Other Protein References for HSPG2 Gene

No data available for DME Specific Peptides for HSPG2 Gene

Domains for HSPG2 Gene

Gene Families for HSPG2 Gene

HGNC:
  • ISET :Immunoglobulin superfamily / I-set domain containing
  • IGD :Immunoglobulin superfamily / Immunoglobulin-like domain containing
  • ECMPG :Proteoglycans / Extracellular Matrix : Other

UniProtKB/Swiss-Prot:

PGBM_HUMAN
Domain:
  • Contains 4 EGF-like domains.:
    • P98160
  • Contains 22 Ig-like C2-type (immunoglobulin-like) domains.:
    • P98160
  • Contains 11 laminin EGF-like domains.:
    • P98160
  • Contains 3 laminin G-like domains.:
    • P98160
  • Contains 3 laminin IV type A domains.:
    • P98160
  • Contains 4 LDL-receptor class A domains.:
    • P98160
  • Contains 1 SEA domain.:
    • P98160
genes like me logo Genes that share domains with HSPG2: view

Function for HSPG2 Gene

Molecular function for HSPG2 Gene

GENATLAS Biochemistry: heparan sulfate proteoglycan 2 (64kDa),basement membrane,syndecan family,linking the cytoskeleton to interstitial matrix
UniProtKB/Swiss-Prot 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
UniProtKB/Swiss-Prot 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
UniProtKB/Swiss-Prot Function: The LG3 peptide has anti-angiogenic properties that require binding of calcium ions for full activity

Gene Ontology (GO) - Molecular Function for HSPG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding --
GO:0005515 protein binding IPI 11956183
GO:0008022 protein C-terminus binding IPI 12604605
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with HSPG2: view
genes like me logo Genes that share phenotypes with HSPG2: view

Animal Models for HSPG2 Gene

MGI Knock Outs for HSPG2:

miRNA for HSPG2 Gene

miRTarBase miRNAs that target HSPG2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for HSPG2 Gene

Localization for HSPG2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HSPG2 Gene

Secreted, extracellular space, extracellular matrix, basement membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HSPG2 Gene COMPARTMENTS Subcellular localization image for HSPG2 gene
Compartment Confidence
extracellular 5
golgi apparatus 4
lysosome 4
plasma membrane 4
vacuole 4
cytoskeleton 1
cytosol 1
nucleus 1

Gene Ontology (GO) - Cellular Components for HSPG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005578 proteinaceous extracellular matrix --
GO:0005604 basement membrane --
GO:0005605 basal lamina IEA --
GO:0005615 extracellular space IDA 16502470
genes like me logo Genes that share ontologies with HSPG2: view

Pathways for HSPG2 Gene

genes like me logo Genes that share pathways with HSPG2: view

Gene Ontology (GO) - Biological Process for HSPG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001523 retinoid metabolic process TAS --
GO:0001525 angiogenesis IEA --
GO:0001958 endochondral ossification IEA --
GO:0002062 chondrocyte differentiation IEA --
GO:0005975 carbohydrate metabolic process TAS --
genes like me logo Genes that share ontologies with HSPG2: view

Compounds for HSPG2 Gene

(2) HMDB Compounds for HSPG2 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
Heparan sulfate
  • HHS 5
9050-30-0

(1) Drugbank Compounds for HSPG2 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Palifermin
  • FGF-7
162394-19-6 target

(137) Novoseek inferred chemical compound relationships for HSPG2 Gene

Compound -log(P) Hits PubMed IDs
pl-cs 88.1 10
inositol 1,4,5 trisphosphate 88.1 101
pip2 85.8 60
phosphoinositide 83.2 79
u 73122 78 9

(1) PharmGKB related drug/compound annotations for HSPG2 Gene

Drug/compound Annotation
antipsychotics CA
genes like me logo Genes that share compounds with HSPG2: view

Transcripts for HSPG2 Gene

mRNA/cDNA for HSPG2 Gene

(12) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(5) Selected AceView cDNA sequences:
(15) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HSPG2 Gene

Heparan sulfate proteoglycan 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HSPG2 Gene

No ASD Table

Relevant External Links for HSPG2 Gene

GeneLoc Exon Structure for
HSPG2
ECgene alternative splicing isoforms for
HSPG2

Expression for HSPG2 Gene

mRNA expression in normal human tissues for HSPG2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HSPG2 Gene

This gene is overexpressed in Artery - Tibial (4.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for HSPG2 Gene

SOURCE GeneReport for Unigene cluster for HSPG2 Gene Hs.562227

mRNA Expression by UniProt/SwissProt for HSPG2 Gene

P98160-PGBM_HUMAN
Tissue specificity: Found in the basement membranes
genes like me logo Genes that share expressions with HSPG2: view

Orthologs for HSPG2 Gene

This gene was present in the common ancestor of animals.

Orthologs for HSPG2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HSPG2 36
  • 85.26 (n)
  • 81.87 (a)
HSPG2 37
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HSPG2 36
  • 87.17 (n)
  • 88.92 (a)
HSPG2 37
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HSPG2 36
  • 88.2 (n)
  • 90.23 (a)
HSPG2 37
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hspg2 36
  • 83.65 (n)
  • 86.33 (a)
Hspg2 16
Hspg2 37
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HSPG2 37
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HSPG2 37
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves HSPG2 36
  • 64.08 (n)
  • 58.9 (a)
lizard
(Anolis carolinensis)
Reptilia HSPG2 37
  • 66 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.22044 36
tropical clawed frog
(Silurana tropicalis)
Amphibia hspg2 36
  • 59.46 (n)
  • 54.82 (a)
zebrafish
(Danio rerio)
Actinopterygii hspg2 36
  • 56.81 (n)
  • 52.98 (a)
hspg2 37
  • 56 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta trol 37
  • 22 (a)
OneToOne
EG:BACR25B3.1 38
  • 35 (a)
EG:BACR25B3.10 38
  • 23 (a)
worm
(Caenorhabditis elegans)
Secernentea T19D12.6 37
  • 21 (a)
OneToMany
unc-52 36
  • 42.25 (n)
  • 30.44 (a)
unc-52 37
  • 28 (a)
OneToMany
unc-52 38
  • 35 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4676 37
  • 30 (a)
OneToOne
Species with no ortholog for HSPG2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HSPG2 Gene

ENSEMBL:
Gene Tree for HSPG2 (if available)
TreeFam:
Gene Tree for HSPG2 (if available)

Paralogs for HSPG2 Gene

Paralogs for HSPG2 Gene

Pseudogenes.org Pseudogenes for HSPG2 Gene

genes like me logo Genes that share paralogs with HSPG2: view

Variants for HSPG2 Gene

Sequence variations from dbSNP and Humsavar for HSPG2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs747546 -- 21,878,013(-) CTGGC(A/G)TTGGG intron-variant
rs878949 -- 21,900,598(+) AAAAC(C/T)ACAGG intron-variant
rs897469 -- 21,877,296(-) aggtg(A/G)tgtcg intron-variant
rs897470 -- 21,877,019(-) TGCAG(A/T)GGCGC intron-variant
rs897471 - 21,864,961(-) GCTGG(C/T)GGCCA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for HSPG2 Gene

Variant ID Type Subtype PubMed ID
esv34155 CNV Loss 18971310
nsv871274 CNV Loss 21882294
nsv515659 CNV Loss 19592680
nsv509013 CNV Insertion 20534489
dgv193n71 CNV Loss 21882294
dgv194n71 CNV Loss 21882294
nsv834402 CNV Loss 17160897
nsv460762 CNV Loss 19166990
nsv870552 CNV Loss 21882294
nsv469549 CNV Loss 16826518
nsv470706 CNV Loss 18288195
nsv871433 CNV Loss 21882294
nsv460784 CNV Loss 19166990
esv1003020 CNV Deletion 20482838
esv2660403 CNV Deletion 23128226
dgv43e1 CNV Complex 17122850
nsv834413 CNV Loss 17160897
nsv460795 CNV Loss 19166990

Relevant External Links for HSPG2 Gene

HapMap Linkage Disequilibrium report
HSPG2
Human Gene Mutation Database (HGMD)
HSPG2

Disorders for HSPG2 Gene

(2) OMIM Diseases for HSPG2 Gene (142461)

UniProtKB/Swiss-Prot

PGBM_HUMAN
  • Schwartz-Jampel syndrome (SJS1) [MIM:255800]: 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. {ECO:0000269 PubMed:11101850}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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. {ECO:0000269 PubMed:11279527}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(91) Novoseek inferred disease relationships for HSPG2 Gene

Disease -log(P) Hits PubMed IDs
dyssegmental dysplasia, silverman-handmaker type 76.1 2
sjogrens syndrome 69.3 45
annular erythema 52 7
sjogrens syndrome primary 50.4 11
schwartz-jampel syndrome 46.9 3

Relevant External Links for HSPG2

Genetic Association Database (GAD)
HSPG2
Human Genome Epidemiology (HuGE) Navigator
HSPG2
genes like me logo Genes that share disorders with HSPG2: view

Publications for HSPG2 Gene

  1. Endorepellin, a novel inhibitor of angiogenesis derived from the C terminus of perlecan. (PMID: 12435733) Mongiat M. … Iozzo R.V. (J. Biol. Chem. 2003) 3 4 23
  2. An association study of a polymorphism in the heparan sulfate proteoglycan gene (perlecan, HSPG2) and Alzheimer's disease. (PMID: 15211644) Rosenmann H. … Abramsky O. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2004) 3 23 49
  3. HSPG2 gene C/A polymorphism does not confer susceptibility to Alzheimer's disease in Chinese. (PMID: 17356275) Wang B. … Wang L. (Dement Geriatr Cogn Disord 2007) 3 23 49
  4. Dyssegmental dysplasia, Silverman-Handmaker type, is caused by functional null mutations of the perlecan gene. (PMID: 11279527) Arikawa-Hirasawa E. … Yamada Y. (Nat. Genet. 2001) 3 4 23
  5. Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia. (PMID: 11941538) Arikawa-Hirasawa E. … Yamada Y. (Am. J. Hum. Genet. 2002) 2 3 23

Products for HSPG2 Gene

Sources for HSPG2 Gene

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