Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol HSPG2 contributors: mct/npt - updated : 20-08-2009
HGNC name heparan sulfate proteoglycan 2
HGNC id 5273
Corresponding disease
DDRD dyssegmental dysplasia, Rolland-Desbuquois type
DDSH dyssegmental dysplasia, Silverman handmarker type
SJS1 Schwartz-Jampel syndrome, type 1
Location 1p36.12      Physical location : 22.148.737 - 22.263.750
Synonym name
  • perlecan, related to rat N.syndecan (71kD)
  • endorepellin (domain V region)
  • perlecan proteoglycan
  • C-terminal angiostatic fragment of perlecan
  • heparan sulfate proteoglycan of basement membrane
  • Synonym symbol(s) KIAA0468, PLV, PLC, PGBM, PRCAN
    DNA
    TYPE functioning gene
    STRUCTURE 74.07 kb     97 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    LOC163933 1p36.12 similar to cDNA sequence BC022623 CDA 1p36.2-p35 cytidine deaminase PINK1 1p36 PTEN induced putative kinase 1 DDOST 1p36.1 dolichyl-diphosphooligosaccharide-protein glycosyltransferase KIF17 1p36.13 kinesin family member 17 LOC388602 1 LOC388602 LOC388603 1 LOC388603 HP1-BP74 1p36.12 HP1-BP74 EIF4G3 11p15 eukaryotic translation initiation factor 4 gamma, 3 LOC388604 1 LOC388604 ECE1 1p36.1 endothelin converting enzyme 1 LOC391014 1 similar to protein phosphatase 1, regulatory (inhibitor) subunit 11 isoform 1; hemochromatosis candidate gene V; t-complex-associated-testis-expressed 5; inhibitor-3 LOC343381 1p36.12 similar to KIAA0454 protein LOC391015 1 similar to hypothetical protein AE2 LOC388605 1 similar to heparan-sulfate 6-sulfotransferase LOC391016 1 similar to KIAA0445 protein AE2 1p36.12 hypothetical protein AE2 ALPL 1p36.1 alkaline phosphatase, liver/bone/kidney RAP1GA1 1p36.1 RAP1, GTPase activating protein 1 USP31 1p36.12 ubiquitin specific protease 31 HSPG2 1p36.11-p35 heparan sulfate proteoglycan 2 (perlecan) LOC391017 1 hypothetical gene supported by X89401; NM_000982 ELA3B 1p36.12 elastase 3B, pancreatic ELA3A 1p36.12 elastase 3A, pancreatic (protease E) HSPC157 1p36.12 HSPC157 protein CDC42 1p36.1 cell division cycle 42 (GTP binding protein, 25kDa) WNT4 1p36.23-p35.1 wingless-type MMTV integration site family, member 4 LOC343384 1p36.12 similar to peptidyl-Pro cis trans isomerase KIAA0478 1pter-q31.3 similar to peptidyl-Pro cis trans isomerase EPHA8 1p36.12 EphA8 C1QA 1p36.3-p34.1 complement component 1, q subcomponent, alpha polypeptide C1QG 1p36.3-p34.1 complement component 1, q subcomponent, gamma polypeptide C1QB 1p36.11 complement component 1, q subcomponent, beta polypeptide EPHB2 1p36.1-p35 EphB2 LOC127309 1p36.11 similar to RIKEN cDNA 4930549C01 KIAA0601 1p36.11 KIAA0601 protein LUZP1 1p36 leucine zipper protein 1
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    97 - 14294 467 4391 - Kallunki (1992)
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Endocrinepancreas   highly
    Lymphoid/Immunespleen   highly
    Nervousnervecranial nerve  highly
    Reproductivemale systemprostate  highly
    Skeletonappendicular skeletonjoint  highly
    Urinarykidney   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivecartilage  highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Cardiovascularendothelial cell
    not specificchondrocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo, fetal
    Text prominent component of human fetal (12-14 week) finger, toe, knee, and elbow cartilages; it was localized diffusely in the interterritorial extracellular matrix, densely in the pericellular matrix around chondrocytes, and to small blood vessels in the joint capsules and perichondrium (Melrose 2006)
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • four domains homologous to the LDL receptor
  • the N terminal region of laminin A and B short arms
  • NCAM globular C terminus of the laminin A chain
  • 22 Ig-like domain
  • three laminin G like domains
  • glycosaminoglycan-bearing perlecan domain I that supports early chondrogenesis and growth factor delivery (Farach-Carson 2008)
  • peptide sequence (TWSKVGGHLRPGIVQSG) from an immunoglobulin (Ig) repeat in domain IV supported rapid cell adhesion, spreading and focal adhesion kinase (FAK) activation (Farach-Carson 2008)
  • four EGF-like domains
  • one SEA domain
  • four EGF-like domains
  • HOMOLOGY
    interspecies homolog to murine Plc
    Homologene
    FAMILY
  • syndecan family
  • CATEGORY secretory , structural protein
    SUBCELLULAR LOCALIZATION extracellular
    text
  • basement membrane
  • protein of extracellular matrix of cartilage
  • strong pericellular localization pattern in postnatal (2-7 month) and mature (55-64 year) femoral cartilages (Melrose 2006)
  • basic FUNCTION
  • linking the cytoskeleton to interstitial matrix
  • required to inhibit thrombosis after deep vascular injury, contributing to endothelial cell mediated inhibition of intimal hyperplasia
  • chains presumably participate in the selective permeability of basement membranes and, additionally, the core protein may be involved in a number of biological functions such as cell binding, LDL-metabolism, basement membrane assembly, calcium binding, and growth- and neurite-promoting activities (Kallunki 1992)
  • maintaining cartilage integrity and also regulating muscle excitability
  • playing an important role in chondrogenesis and skeletal development, as well as harboring pro- and anti-angiogenic activities
  • may be involved in cartilage collagen matrix assembly, and in extracellular matrix assembly
  • negatively regulates angiogenesis counter to its proangiogenic parental molecule
  • requires both the ITGA2 integrin and KDR for its angiostatic activity
  • novel antiangiogenic modality that could supplement established therapies in clinical use or in preclinical stages
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component
  • major component of basement membranes
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • with nidogen (NID,NID2), fibulin 2 (FBLN2), fibronectin (FN1, FN2), FGF7 (activation of its receptor)
  • with ECM1
  • bind directly and with high affinity to both KDR and FLT1, in a region that differs from VEGFA-binding site
  • cell & other
    REGULATION
    inhibited by TGF beta
    ASSOCIATED DISORDERS
    corresponding disease(s) DDSH , SJS1 , DDRD
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    Perlecan knock-in mice were developed to model Schwartz-Jampel syndrome (SJS), a skeletal disease resulting from decreased perlecan (Rodgers 2007)