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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

HSPG2 Gene

protein-coding   GIFtS: 70
GCID: GC01M022148

Heparan Sulfate Proteoglycan 2

(Previous name: Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia))
(Previous symbol: SJS1)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Heparan Sulfate Proteoglycan 21 2     SJS2 5
SJS11 2 5     Schwartz-Jampel Syndrome 1 (Chondrodystrophic Myotonia)1
PLC2 3 5     PRCAN2
Perlecan Proteoglycan1 2     Basement Membrane-Specific Heparan Sulfate Proteoglycan Core Protein2
HSPG2 3     Endorepellin (Domain V Region)2
SJA2 5     Perlecan3

External Ids:    HGNC: 52731   Entrez Gene: 33392   Ensembl: ENSG000001427987   OMIM: 1424615   UniProtKB: P981603   

Export aliases for HSPG2 gene to outside databases

Previous GC identifers: GC01M021719 GC01M021183 GC01M021294 GC01M021619 GC01M021620 GC01M021894 GC01M022021 GC01M020392


(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 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 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)

GeneCards Summary for HSPG2 Gene: 
HSPG2 (heparan sulfate proteoglycan 2) is a protein-coding gene. Diseases associated with HSPG2 include gas gangrene, and kyphomelic dysplasia, and among its related super-pathways are Syndecan interactions and Metabolism of carbohydrates. GO annotations related to this gene include protein C-terminus binding and metal ion binding. An important paralog of this gene is EGFLAM.

UniProtKB/Swiss-Prot: PGBM_HUMAN, P98160
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
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

Gene Wiki entry for HSPG2 (Perlecan) 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_004610.19  NC_018912.2  
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

SwitchGear Promoter luciferase reporter plasmidHSPG2 promoter sequence
   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)
HSPG2 gene location

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

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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
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)
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
amniotic fluid 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 Q9H3V5

Explore the universe of human proteins at neXtProt for HSPG2: NX_P98160

Explore proteomics data for HSPG2 at MOPED 

Post-translational modifications:

  • UniProtKB: Proteolytic processing produces the C-terminal angiogenic peptide, endorepellin. This peptide can be further
    processed to produce the LG3 peptide
  • UniProtKB: 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
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P98160

  • HSPG2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    HSPG2 Protein Expression
    REFSEQ proteins: NP_005520.4  
    ENSEMBL proteins: 
     ENSP00000363827   ENSP00000392022   ENSP00000363808   ENSP00000396310   ENSP00000397573  
     ENSP00000405412   ENSP00000363805   ENSP00000395884   ENSP00000416385  
    Reactome Protein details: P98160
    Human Recombinant Protein Products for HSPG2: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for HSPG2 (Endorepellin/Perlecan)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for HSPG2
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for HSPG2
    GenScript Custom Purified and Recombinant Proteins Services for HSPG2
    Novus Biologicals HSPG2 Protein
    Novus Biologicals HSPG2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for HSPG2 

    Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005578proteinaceous extracellular matrix ----
    GO:0005604basement membrane ----
    GO:0005605basal lamina IEA--
    GO:0005615extracellular space IDA--

    HSPG2 for ontologies           About GeneDecksing



    HSPG2 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of HSPG2
    R&D Systems Antibodies for HSPG2 (Endorepellin/Perlecan)
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for HSPG2
    GenScript Custom Superior Antibodies Services for HSPG2
    Novus Biologicals HSPG2 Antibodies
    Abcam antibodies for HSPG2
    Cloud-Clone Corp. Antibodies for HSPG2 
    ThermoFisher Antibody for HSPG2
    LSBio Antibodies in human, mouse, rat for HSPG2 

    Assay Products for HSPG2: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for HSPG2
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for HSPG2
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for HSPG2 
    Cloud-Clone Corp. CLIAs for HSPG2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    ECMPG: Proteoglycans / Extracellular Matrix : Other
    ISET: Immunoglobulin superfamily / I-set domain containing
    IGD: Immunoglobulin superfamily / Immunoglobulin-like domain containing

    5/15 InterPro protein domains (see all 15):
     IPR003598 Ig_sub2
     IPR000034 Laminin_B_type_IV
     IPR023415 LDLR_class-A_CS
     IPR000742 EG-like_dom
     IPR013320 ConA-like_subgrp

    Graphical View of Domain Structure for InterPro Entry P98160

    ProtoNet protein and cluster: P98160

    5/12 Blocks protein domains (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 domains
    Similarity: Contains 22 Ig-like C2-type (immunoglobulin-like) domains
    Similarity: Contains 11 laminin EGF-like domains
    Similarity: Contains 3 laminin G-like domains
    Similarity: Contains 3 laminin IV type A domains
    Similarity: Contains 4 LDL-receptor class A domains
    Similarity: Contains 1 SEA domain


    HSPG2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PGBM_HUMAN, P98160
    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
    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

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding ----
    GO:0005515protein binding IPI11956183
    GO:0008022protein C-terminus binding IPI12604605
    GO:0046872metal ion binding IEA--
         
    HSPG2 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for HSPG2:
     Decreased Salmonella enterica   Decreased focal adhesion (FA)  

         15/21 MGI mutant phenotypes (inferred from 7 alleles(MGI details for Hspg2) (see all 21):
     behavior/neurological  cardiovascular system  cellular  craniofacial  digestive/alimentary 
     embryogenesis  growth/size  hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism 
     immune system  integument  limbs/digits/tail  liver/biliary system  mortality/aging 

    HSPG2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for HSPG2: Hspg2tm1Nid Hspg2tm1Soin Hspg2tm1Ref

       inGenious Targeting Laboratory - Custom generated mouse model solutions for HSPG2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for HSPG2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HSPG2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HSPG2 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HSPG2
    8/29 QIAGEN miScript miRNA Assays for microRNAs that regulate HSPG2 (see all 29):
    hsa-miR-1197 hsa-miR-520d-5p hsa-miR-15a hsa-miR-29a hsa-miR-29c hsa-miR-503 hsa-miR-1908 hsa-miR-3653
    SwitchGear 3'UTR luciferase reporter plasmidHSPG2 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for HSPG2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HSPG2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for HSPG2


    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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    OriGene 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

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for HSPG2
    Search LifeMap BioReagents cell lines for HSPG2
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HSPG2


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for HSPG2 About   (see all 19)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Non-integrin membrane-ECM interactions
    Non-integrin membrane-ECM interactions0.44
    ECM-receptor interaction0.42
    2MPS IIIC - Sanfilippo syndrome C
    MPS IIIC - Sanfilippo syndrome C0.48
    Mucopolysaccharidoses0.48
    MPS IV - Morquio syndrome A0.48
    MPS IIID - Sanfilippo syndrome D0.48
    MPS IV - Morquio syndrome B0.48
    MPS I - Hurler syndrome0.48
    MPS VI - Maroteaux-Lamy syndrome0.48
    MPS IX - Natowicz syndrome0.48
    3Integrin Pathway
    Integrin Pathway0.67
    UPA-UPAR Pathway0.56
    FAK1 Signaling0.67
    Inhibition of Angiogenesis by TSP10.50
    GnRH Signaling0.56
    Transendothelial Migration of Leukocytes0.38
    4Rho Family GTPases
    Rho Family GTPases0.61
    Molecular Mechanisms of Cancer0.51
    ERK Signaling0.61
    ILK Signaling0.49
    MAPK Signaling0.58
    5Lipoprotein metabolism
    Lipoprotein metabolism0.57
    Lipid digestion, mobilization, and transport0.56
    Chylomicron-mediated lipid transport0.57

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for HSPG2
        Development FGF-family signaling
    Development FGFR signaling pathway

    5/15 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for HSPG2 (see all 15)
        MAPK Signaling
    Inhibition of Matrix Metalloproteinases
    Molecular Mechanisms of Cancer
    PTEN Pathway
    Transendothelial Migration of Leukocytes

    2 GeneGo (Thomson Reuters) Pathways for HSPG2
        Development FGF-family signaling
    Development FGFR signaling pathway

    5/32        Reactome Pathways for HSPG2 (see all 32)
        Diseases associated with visual transduction
    Metabolism
    Chondroitin sulfate/dermatan sulfate metabolism
    MPS VI - Maroteaux-Lamy syndrome
    Chylomicron-mediated lipid transport


    3         Kegg Pathways  (Kegg details for HSPG2):
        ECM-receptor interaction
    Hepatitis B
    Proteoglycans in cancer


    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 (P981602, 3 ENSP000003638274) via UniProtKB, MINT, STRING, and/or I2D (see all 139)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GRNP287992, 3, ENSP000000538674MINT-14457 MINT-14455 MINT-14456 I2D: score=3 STRING: ENSP00000053867
    NID1P145433, ENSP000002641874I2D: score=5 STRING: ENSP00000264187
    PDGFAP040853, ENSP000003465084I2D: score=3 STRING: ENSP00000346508
    APPP050673, ENSP000002849814I2D: score=2 STRING: ENSP00000284981
    BMP1P134973, ENSP000003057144I2D: score=2 STRING: ENSP00000305714
    About this table

    Gene Ontology (GO): 5/18 biological process terms (GO ID links to tree view) (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001523retinoid metabolic process TAS--
    GO:0001525angiogenesis IEA--
    GO:0001958endochondral ossification IEA--
    GO:0002062chondrocyte differentiation IEA--
    GO:0005975carbohydrate metabolic process TAS--

    HSPG2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for HSPG2 (PGBM)

    2 HMDB Compounds for HSPG2    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    Heparan sulfateHHS 5 (see all 13)9050-30-0--

    1 DrugBank Compound for HSPG2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    PaliferminFGF-7 (see all 5)162394-19-6target--9788974 14753849 10593896 16989989

    10/137 Novoseek inferred 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

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, Sirion Biotech, 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

    miRNA
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    8/29 QIAGEN miScript miRNA Assays for microRNAs that regulate HSPG2 (see all 29):
    hsa-miR-1197 hsa-miR-520d-5p hsa-miR-15a hsa-miR-29a hsa-miR-29c hsa-miR-503 hsa-miR-1908 hsa-miR-3653
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    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat HSPG2
    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HSPG2

    Additional mRNA sequence: 

    AB209851.1 AF479675.1 BC033152.1 BC109204.1 M64283.1 M85289.1 S76436.1 X62515.1 

    24/25 DOTS entries (see all 25):

    DT.97794852  DT.117676  DT.99943960  DT.100726160  DT.95321264  DT.97791668  DT.91673210  DT.99929478 
    DT.100044636  DT.100790475  DT.40215860  DT.95203868  DT.95370971  DT.100042969  DT.100721093  DT.121425196 
    DT.121425213  DT.86849248  DT.91762524  DT.95203857  DT.95203873  DT.100786383  DT.121425128  DT.75118602 

    5 AceView cDNA sequences:

    AA143738 BF872762 AA093907 R26043 AA143725 

    GeneLoc Exon Structure


    (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)      HSPG2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCACCCTCAC
    HSPG2 Expression
    About this image


    HSPG2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/12 selected tissues (see all 12) fully expand
     
     Endothelium (Cardiovascular System)    fully expand to see all 3 entries
             Endothelial-like cells ( Derivation and purification of endothelial precursor cells...
             huvec   
     
     Peripheral Nervous System (Nervous System)
             PERIPHERAL NERVOUS SYSTEM   
     
     Bone (Muscoskeletal System)
             Notch-transfected mesenchymal stromal cells (SB623)
     
     Cartilage (Muscoskeletal System)
             fetal cartilage   
     
     Neural Tube (Nervous System)
             Primitive Spinal Cord

    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
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl 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 7/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hspg21 , 5 perlecan (heparan sulfate proteoglycan 2)1, 5 83.65(n)1
    86.28(a)1
      4 (69.93 cM)5
    155301  NM_008305.31  NP_032331.21 
     1374687695 
    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 --
    --
    --
    65(a)
    62(a)
    possible ortholog
    possible ortholog
    AAWZ02038048(21-10407)
    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 more3
    Protein UNC-521
    35(a)3
    41.76(n)1
    30.34(a)1
      II(14643132-14662505)3
    1751261  NM_064643.71  NP_497044.31 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HSPG2 gene
    EGFLAM2  AGRN2  
    16 SIMAP similar genes for HSPG2 using alignment to 12 protein entries:     PGBM_HUMAN (see all proteins):
    F9    LRP4    LAMA3    PXDN    CNTN5    LamA3
    MUSK    PXDNL    CHL1    IGDCC3    VLDLR    CNTN2
    HMCN1    LAMA4    LRIG3(NM_001136051)-ROS1    LRIG3(NM_153377)-ROS1

    HSPG2 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for HSPG2
    PGOHUM00000237621


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

    10/3366 SNPs in HSPG2 are shown (see all 3366)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0141224
    Schwartz-Jampel syndrome (SJS1)4--see VAR_0141222 C Y mis40--------
    rs1152679631,2
    C,Funtested120457238(+) GTGGCG/AGGGGG 2 /P /L mis12Minor allele frequency- A:0.00WA NA 4664
    rs590028961,2
    C,F--20391720(+) TCCTCG/AATGCT 1 -- int13Minor allele frequency- A:0.12WA NA 240
    rs1927824591,2
    C--20391841(+) GTACCA/TCGTGC 1 -- int10--------
    rs1464228511,2
    --20391927(+) CCTAGA/CGGGGC 1 -- int10--------
    rs66874661,2
    C,A--20391943(+) GCACAT/CGGGAA 1 -- int15Minor allele frequency- C:0.31NA CSA WA EA 362
    rs1485966381,2
    --20391965(+) TCTGGA/GGTCAG 1 -- int10--------
    rs1150196091,2
    F--20391968(+) GGGGTC/GAGACT 1 -- int11Minor allele frequency- G:0.02WA 118
    rs1836958641,2
    --20391978(+) TCTTTA/GGGTTC 1 -- int10--------
    rs1865416051,2
    --20392032(+) CCTCTA/GAGACT 1 -- int10--------

    HapMap Linkage Disequilibrium report for HSPG2 (22148737 - 22263790 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/18 variations for HSPG2 (see all 18):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2660403CNV Deletion23128226
    esv1003020CNV Deletion20482838
    nsv509013CNV Insertion20534489
    nsv460762CNV Loss19166990
    nsv871274CNV Loss21882294
    nsv871433CNV Loss21882294
    nsv515659CNV Loss19592680
    nsv834413CNV Loss17160897
    nsv460784CNV Loss19166990
    nsv469549CNV Loss16826518


    Human Gene Mutation Database (HGMD): HSPG2
    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for HSPG2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 142461   
    OMIM disorders: 255800  224410  
    UniProtKB/Swiss-Prot: PGBM_HUMAN, P98160
  • 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. 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. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 20/162 diseases for HSPG2 (see all 162):    About MalaCards
    gas gangrene    kyphomelic dysplasia    dyssegmental dysplasia silverman-handmaker type    hyperglobulinemic purpura
    schwartz jampel syndrome type 1    conjunctival degeneration    sialadenitis    keratoconjunctivitis sicca
    erythema multiforme    mixed connective tissue disease    mononeuritis    myotonia
    empty sella syndrome    chronic progressive multiple sclerosis    tardive dyskinesia    sjogren-larsson syndrome
    sjogren's syndrome    dacryoadenitis    dry eye syndrome    temporal arteritis

    9 diseases from the University of Copenhagen DISEASES database for HSPG2:
    Stevens-Johnson syndrome     Mixed connective tissue disease     Erythema multiforme     Hypersensitivity reaction type II disease
    Dermatomyositis     Dacryoadenitis     Dry eye syndrome     Hyperglobulinemic purpura
    Conjunctival degeneration

    HSPG2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/91 Novoseek inferred 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

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for HSPG2 gene, integrated from 9 sources (see all 1236):
    (articles sorted by number of sources associating them with HSPG2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. 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)
    3. HSPG2 gene C/A polymorphism does not confer susceptibility to Alzheimer's disease in Chinese. (PubMed id 17356275)1, 4, 9 Wang B....Wang L. (2007)
    4. 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)
    5. 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)
    6. 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)
    7. Association of the HSPG2 gene with neuroleptic-induce d tardive Dyskinesia. (PubMed id 20072119)1, 4 Syu A....Arinami T. (2010)
    8. The Intracranial Aneurysm Susceptibility Genes HSPG2 and CSPG2 Are Not Associated With Abdominal Aortic Aneurysm. (PubMed id 20053631)1, 4 Baas A.F....Ruigrok Y.M. (2010)
    9. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    10. Identification of fetal and maternal single nucleotid e polymorphisms in candidate genes that predispose to spontaneous preterm labor with intact membranes. (PubMed id 20452482)1, 4 Romero R....Menon R. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3339 HGNC: 5273 AceView: HSPG2.1 Ensembl:ENSG00000142798 euGenes: HUgn3339
    ECgene: HSPG2 Kegg: 3339 H-InvDB: HSPG2

    (According to HUGE)
    About This Section
      --

    (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
    NameDescription
    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
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HSPG2

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    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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    About This Section

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