Database for Annotation, Visualization and Integrated Discovery 2.1
National Institute of Allergy and Infectious Disease
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heparan sulfate proteoglycan 2(HSPG2) heparan sulfate proteoglycan 2(HSPG2) Related Genes Homo sapiens
CYTOBAND 1p36.1-p34,
GENERIF_SUMMARY Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia, Augmented synthesis and differential localization of heparan sulfate proteoglycans in Duchenne muscular dystrophy., Identification of integrin alpha(M)beta(2) as an adhesion receptor on human peripheral blood monocytes for Cyr61 and connective tissue growth factor, CTGF/Hcs24 produced in the hypertrophic region may act on chondrocytes in the proliferative and maturative zone via some heparan sulfate proteoglycan, such as perlecan., progranulin/perlecan interactions have a role in the fine regulation of tumor angiogenesis, expression of perlecan, but not other HSPGs, is dramatically down-regulated in human umbilical vein endothelial cells (HUVECs) treated with antiangiogenic cleaved and latent forms of antithrombin but not with the native form., HSPG2 A allele may possess an additive risk effect in APOE epsilon 4 carriers in a Finnish population with Alzheimer's disease., results demonstrate that extracellular matrix perlecan is a degradative target of heparanase (HPSE-1), increased expression associated with Cyclosporin A-induced gingival overgrowth, Hyperglycemia-induced structural changes in perlecan may result in a subendothelial matrix that is more favorable to retention of monocytes., findings show no evidence for association between HSPG2 intron 6 BamHI polymorphism and Alzheimer's disease in a Jewish population, and no interactive effect was found with the known risk factor apolipoprotein E (APOE) epsilon4., Endorepellin causes endothelial cell disassembly of actin cytoskeleton and focal adhesions through alpha2beta1 integrin, We conclude that the perlecan mediates Tat uptake and is required for HIV-1 LTR-directed transactivation in WiDr cells., High affinity interactions between fibrillin-1 and perlecan were found by kinetic binding studies with dissociation constants in the low nanomolar range., The gene expression of perlecan is partially suppressed by antiangiogenic forms of antithrombin., Results describe perlecan purified from HEK-293 cells substituted with heparan sulphate, chondroitin sulphate and keratan sulphate; first to report perlecan containing keratan sulphate, perlecan regulates both the survival and terminal differentiation steps of keratinocytes, Perlecan is an essential extracellular matrix component involved in growth responses of metastatic prostate cancer cells to heparin-binding growth factors deposited in local and metastatic microenvironment, WARP forms macromolecular structures that interact with perlecan to contribute to the assembly and/or maintenance of "permanent" cartilage structures during development and in mature cartilages, The expression level of perlecan and perlecan mRNA significantly increased in Hep-2 cells as compared with normal cells., Reduction of perlecan mRNA-expression and protein deposition in human atherosclerosis, which in part explains the low levels of heparan sulfate in this disease., perlecan secreted by VEGF165-stimulated endothelial cells may be involved in the regulation of cellular behavior during angiogenesis, perlecan is a prominent pericellular proteoglycan differently expressed in fetal, postnatal, and mature hyaline cartilage, The HSPG2 BamH I polymorphism C/A of intron 6 may not represent an additional genetic risk factor for late-onset AD., the angiostatic effects of endorepellin in vivo are mediated by a specific interaction of endorepellin with the alpha2beta1 integrin receptor., Caspase-3 activation triggers extracellular cathepsin L release and endorepellin proteolysis., TT genotype showed significantly increased risk for urolithiasis than TG and GG genotypes., Examine association between perlecan SNPs and intracranial aneurysms in Japanese cohort., the angioinhibitory action of NK4 involves impaired extracellular assembly of fibronectin mediated by perlecan-NK4 association, The perlecan was prominently immunolocalised in the cartilaginous vertebral body rudiments and to a lesser extent within the foetal intervertebral disc., These data highlight the potential role of perlecan oxidation, and consequent deregulation of cell function, in vascular injuries by myeloperoxidase-derived hypochlorous and hypobromous acids., Endorepellin caused a widespread reduction in phosphorylation of key receptors involved in angiogenesis & a concurrent increase in phosphatase activity in endothelial cells & tumor xenografts., there might be no association between perlecan gene polymorphism and spinal muscular atrophy type I disease., in contrast to IA, HSPG2 and CSPG2 do not associate with AAA., These findings suggest that the HSPG2 gene is involved in neuroleptic-induced tardive dyskinesia (TD) and higher expression of HSPG2, probably even after antipsychotic treatment, and may be associated with TD susceptibility., perlecan plays an indispensible role in endothelial cell proliferation and acts through a mechanism that involves subcellular localization of p27., FGF2 and -18 bind to discrete structures on the heparan sulfate chains attached to chondrocyte-derived perlecan which modulate the growth factor activities, perlecan followed virtually identical immunolocalisation pattern to type II collagen in foetal joint tissue, but a slightly divergent pattern in adult tissues; evidence indicates perlecan is a marker of chondrogenic cells in prenatal cartilages, Domain V of perlecan, a known alpha2 integrin ligand, inhibits brain amyloid-beta neurotoxicity in an alpha2 integrin-dependent manner., Ameloblastoma cells proliferate and are differentiated by capturing perlecan differentially with alpha-dystroglycan and integrin beta1, respectively, endorepellin requires both the alpha2beta1 integrin and VEGFR2 for its angiostatic activity, association of the HSPG2 intronic SNP, rs2445142, with tardive dyskinesia susceptibility was demonstrated., TGF-beta(1)-induced perlecan deposition may enhance attachment of migrating airway smooth muscle cells (ASMC) in vivo and thus may be a mechanism for ASMC layer hypertrophy in chronic obstructive pulmonary disease, The perlecan fragment LG3 is a novel regulator of obliterative remodeling associated with allograft vascular rejection., activity mediated release of LG3/endorepellin into the circulation may represent a biological mechanism for the known inverse association between physical activity and cancer risk/survival, The C-terminal fragment of the extracellular matrix component perlecan (domain V, DV) has been shown to be increased in arteriovenous malformation of the brain., Endorepellin affects angiogenesis by antagonizing diverse VEGFR2-evoked signaling pathways, Report immunolocalization of fibrillin-1/perlecan in human fetal intervertebral disc., we suggest that the LG3 fragment of endorepellin could be associated with IgA nephropathy severity and might be related to pathogenesis of IgA nephropathy ., This study shows for the first time that mast cells secrete and process the extracellular proteoglycan perlecan into fragments containing the endorepellin C-terminal region that regulate angiogenesis and matrix turnover., Based on genetic analysis of patients with BA and zebrafish, GPC1 appears to be a BA susceptibility gene. These findings also support a role for Hedgehog signaling in the pathogenesis of BA, Endorepellin binds through its proximal LG1/2 domains to VEGFR2 and inhibit VEGFA-dependent endothelial migration., role for perlecan in chondrogenic and osteogenic events which drive discal development and ossification of the vertebral bodies., The overexpression of hypomethylated miR-663 induces chemotherapy resistance in human breast cancer cells by targeting heparin sulfate proteoglycan 2 (HSPG2)., [review] Perlecan domain V reached the infarcted brain tissue and peri-infarct brain regions because a transient middle cerebral artery occlusion model allowed for vascular reperfusion to the stroked brain region after 1 h of experimental occlusion., No association has been found between polymorphisms of rs251124 and rs3767137 loci of CSPG2 and HSPG2 genes and intracranial aneurysm in the selected population., Urinary perlecan laminin G-like 3 peptide and Ig kappa light chains were decreased in IgA nephropathy., endorepellin glycoforms may be highly specific and sensitive biomarkers for the differentiation of mucinous from nonmucinous pancreatic cysts., Data suggest that cancer cell-derived exosomes use heparan sulfate proteoglycans (HSPGs) for their internalization and functional activity, which significantly extends the emerging role of HSPGs as key receptors of macromolecular cargo., this study hypothesizes the transcriptional control of the HSPG2 gene in mast cells to synthesize these transcripts supports their stimulatory and specific role in wound healing and tissue regeneration., Perlecan synthesized by smooth muscle cells differs from that synthesized by endothelial cells by possessing different signaling capabilities and thus differential modulation of cell adhesion, proliferation and growth factor signaling., The perlecan is the primary ECM molecule comprising intraepithelial stroma of the junctional epithelium, in which leukocytes may migrate on ECM scaffolds in intercellular space toward the surface of the gingival sulci or pockets., We conclude that enzymatic processing of perlecan in the BM or territorial matrix by MMP-7 as occurs in the invasive tumor microenvironment acts as a molecular switch to alter PCa cell behavior and favor cell dispersion and invasiveness., Mutant genes (CELA1, HSPG2, and KCNK5) in Balkan endemic nephropathy patients encode proteins involved in basement membrane/extracellular matrix and vascular tone, tightly connected to process of angiogenesis., Rare variants in the HSPG2 gene potentially contribute to the idiopathic scoliosis phenotype in a subset of patients with idiopathic scoliosis, Knockdown of agrin and perlecan promoted a decrease on cell migration and adhesion, and on resistance of cells to cisplatin., As five of the seven missense mutations in Schwartz-Jampel syndrome affect domain III of perlecan, domain III is likely to be essential for secretion of perlecan into the extracellular space.,
OMIM_DISEASE Dyssegmental dysplasia, Silverman-Handmaker type, Schwartz-Jampel syndrome, type 1,
SP_COMMENT disease: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., disease: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., function:This protein is an integral component of basement membranes. It is responsible for the fixed negative electrostatic charge and is involved in the charge-selective ultrafiltration properties. It serves as an attachment substrate for cells., online information:Perlecan entry, PTM:N- and O-glycosylated; contains three heparan sulfate chains., similarity:Contains 1 SEA domain., similarity:Contains 11 laminin EGF-like domains., similarity:Contains 22 Ig-like C2-type (immunoglobulin-like) domains., similarity:Contains 3 laminin G-like domains., similarity:Contains 3 laminin IV type A domains., similarity:Contains 4 EGF-like domains., similarity:Contains 4 LDL-receptor class A domains., subunit: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., tissue specificity:Found in the basement membranes.,