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

HSPG2 Gene

protein-coding   GIFtS: 69
GCID: GC01M022148

heparan sulfate proteoglycan 2

(Previous name: Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)...)
(Previous symbol: SJS1)
 Explore 169 diseases affiliated with
HSPG2 via our new
 Human Malady Compendium 
Biological research products
for HSPG2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Heparan Sulfate Proteoglycan 21 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     

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:
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), 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)


(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

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 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, 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 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

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 PhosphoSitePlus2
  • View neXtProt modification sites for NX_P98160

  • HSPG2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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: 
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    Novus Biologicals HSPG2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn 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: 
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    ThermoFisher Antibodies for HSPG2

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    (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):
     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 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 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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, 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), 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

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    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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    Gene Editing
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    Clone
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI11956183
    GO:0008022protein C-terminus binding IPI12604605
    GO:0046872metal ion binding IEA--


    HSPG2 for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-outs for HSPG2: Hspg2tm1Nid Hspg2tm1Soin Hspg2tm1Ref
         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


    (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 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, 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 17About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1MPS IIIC - Sanfilippo syndrome C
    8/16 pathways (see all 16)
    MPS VI - Maroteaux-Lamy syndrome1.00
    MPS IIIA - Sanfilippo syndrome A1.00
    MPS IIIC - Sanfilippo syndrome C1.00
    MPS IIID - Sanfilippo syndrome D1.00
    MPS I - Hurler syndrome1.00
    MPS IX - Natowicz syndrome1.00
    Mucopolysaccharidoses1.00
    MPS II - Hunter syndrome1.00
    2Integrin Pathway
    Integrin Pathway1.00
    UPA-UPAR Pathway0.51
    FAK1 Signaling0.67
    Transendothelial Migration of Leukocytes0.38
    GnRH Signaling0.56
    Inhibition of Angiogenesis by TSP10.37
    3Rho Family GTPases
    Rho Family GTPases1.00
    MAPK Signaling0.51
    ERK Signaling0.61
    ILK Signaling0.45
    Molecular Mechanisms of Cancer0.51
    4Lipoprotein metabolism
    Lipoprotein metabolism1.00
    Lipid digestion, mobilization, and transport0.56
    Chylomicron-mediated lipid transport0.57
    5Retinoid metabolism and transport
    Retinoid metabolism and transport1.00
    Diseases associated with visual transduction0.73
    Visual phototransduction0.74

    Pathway sources
    See GeneCards unified pathways
    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


    1         Kegg Pathway  (Kegg details for HSPG2):
        ECM-receptor interaction


    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
    FBLN2P980953, ENSP000003841694I2D: score=3 STRING: ENSP00000384169
    PDGFAP040853, ENSP000003465084I2D: score=3 STRING: ENSP00000346508
    PRELPP518883, ENSP000003439244I2D: score=3 STRING: ENSP00000343924
    APPP050673, ENSP000002849814I2D: score=2 STRING: ENSP00000284981
    About this table

    Gene Ontology (GO): 5/17 biological process terms (GO ID links to tree view) (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001525angiogenesis IEA--
    GO:0001958endochondral ossification IEA--
    GO:0002062chondrocyte differentiation IEA--
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006024glycosaminoglycan biosynthetic process TAS--


    HSPG2 for ontologies           About GeneDecksing



    (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 Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for HSPG2

    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 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 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,
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    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

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    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


    (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 imageBioGPS
    CGAP TAG: CCACCCTCAC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    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 CellCategory (developmental path)
    HeartEndocardiumEndocardial Tube CellsEndocardium
    Expression: Positive    Negative     Selective marker
    Experimental 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

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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 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 ↔ 1
    possible 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 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
    VCAM12  IGSF102  HMCN12  ENSG000002154282  PTK72  HMCN22  MXRA52  
    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


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

    10/2393 NCBI SNPs in HSPG2 are shown (see all 2393    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1152679631,2
    C,F,other20457238(+) GTGGCG/AGGGGG 2 /P /L mis12Minor allele frequency- A:0.00WA NA 4664
    rs590028961,2
    C,--20391720(+) TCCTCG/AATGCT 1 -- int13Minor allele frequency- A:0.12WA NA 240
    rs1125530461,2
    C--20392207(+) CCCCTC/G/TGCGGG 2 -- ut311CSA 1
    rs10496751,2
    C,F,--20392286(-) NNNNAC/TGCCTG 1 -- ut31 ese32Minor allele frequency- T:0.05MN NA 304
    rs125661711,2
    H--20392499(+) TTCCAA/GATGGG 1 -- ut310--------
    rs1163543011,2
    C,F,--20392542(+) TGGGCG/AGGGCC 1 -- ut311Minor allele frequency- A:0.05WA 118
    rs115525641,2
    C--20392592(+) GAGTTG/AGGGTG 1 -- ut31 ese31Minor allele frequency- A:0.00NA 2
    rs10496441,2
    C,F,A,H,--20392652(-) CACCCC/GCTCCT 1 -- ut31 ese39Minor allele frequency- G:0.20EA MN NA CSA WA 2048
    rs1113065151,2
    C--20393683(+) CTCCCA/G/TGCAGT 1 -- spa11CSA 1
    rs37363561,2
    C,F,--20393934(-) GGCTCG/AGGCTT 1 -- int12Minor allele frequency- A:0.03EA 1618

    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
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    (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

    (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 1224):
    (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. 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)
    4. 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)
    5. 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)
    6. Role of tyrosine phosphatase SHP-1 in the mechanism of endorepellin angiostatic activity. (PubMed id 19789387)1, 2 Nystrom A.... Iozzo R.V. (2009)
    7. Integrin alpha2beta1 is the required receptor for endorepellin angiostatic activity. (PubMed id 18024432)1, 2 Woodall B.P....Iozzo R.V. (2008)
    8. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)1, 2 Liu T.... Smith R.D. (2005)
    9. 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)
    10. 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)

    (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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