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    HSPG2 heparan sulfate proteoglycan 2 [ Homo sapiens ]

    Gene ID: 3339, updated on 4-Feb-2012
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    Summary

    Official Symbol
    HSPG2provided by HGNC
    Official Full Name
    heparan sulfate proteoglycan 2provided by HGNC
    Primary source
    HGNC:5273
    Locus tag
    RP11-132G19.2
    See related
    Ensembl:ENSG00000142798; HPRD:00804; MIM:142461; Vega:OTTHUMG00000002674
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PLC; SJA; SJS; HSPG; SJS1; PRCAN
    Summary
    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]
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    Genomic context

    Location :
    1p36.1-p34
    Sequence :
    Chromosome: 1; NC_000001.10 (22148737..22263750, complement)
    See HSPG2 in Epigenomics, MapViewer

    Chromosome 1 - NC_000001.10Genomic Context describing neighboring genes Neighboring gene RAP1 GTPase activating protein Neighboring gene ubiquitin specific peptidase 48 Neighboring gene low density lipoprotein receptor class A domain containing 2 Neighboring gene ribosomal protein L21 pseudogene 29 Neighboring gene chymotrypsin-like elastase family, member 3B Neighboring gene chymotrypsin-like elastase family, member 3A

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Endorepellin, the angiostatic module of perlecan, interacts with both the α2β1 integrin and vascular endothelial growth factor receptor 2 (VEGFR2): a dual receptor antagonism. Goyal A, et al. J Biol Chem, 2011 Jul 22. PMID 21596751.
    2. Differential expression profiles between α-dystroglycan and integrin β1 in ameloblastoma: two possible perlecan signalling pathways for cellular growth and differentiation. Ida-Yonemochi H, et al. Histopathology, 2011 Jan. PMID 21255062.
    3. Comparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxia. Kahle JJ, et al. Hum Mol Genet, 2011 Feb 1. PMID 21078624.
    4. Comparative immunolocalisation of perlecan with collagen II and aggrecan in human foetal, newborn and adult ovine joint tissues demonstrates perlecan as an early developmental chondrogenic marker. Smith SM, et al. Histochem Cell Biol, 2010 Sep. PMID 20690028.
    5. A genetic association study of maternal and fetal candidate genes that predispose to preterm prelabor rupture of membranes (PROM). Romero R, et al. Am J Obstet Gynecol, 2010 Oct. PMID 20673868.

    See all (85) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. endorepellin requires both the alpha2beta1 integrin and VEGFR2 for its angiostatic activity
      Title: Endorepellin, the angiostatic module of perlecan, interacts with both the α2β1 integrin and vascular endothelial growth factor receptor 2 (VEGFR2): a dual receptor antagonism.
    2. Ameloblastoma cells proliferate and are differentiated by capturing perlecan differentially with alpha-dystroglycan and integrin beta1, respectively
      Title: Differential expression profiles between α-dystroglycan and integrin β1 in ameloblastoma: two possible perlecan signalling pathways for cellular growth and differentiation.
    3. The expression level of perlecan and perlecan mRNA significantly increased in Hep-2 cells as compared with normal cells.
      Title: [Expression of perlecan in laryngeal carcinoma cell and its significance].
    4. 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
      Title: Comparative immunolocalisation of perlecan with collagen II and aggrecan in human foetal, newborn and adult ovine joint tissues demonstrates perlecan as an early developmental chondrogenic marker.
    5. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    6. FGF2 and -18 bind to discrete structures on the heparan sulfate chains attached to chondrocyte-derived perlecan which modulate the growth factor activities
      Title: Heparan sulfate-dependent signaling of fibroblast growth factor 18 by chondrocyte-derived perlecan.
    7. in contrast to IA, HSPG2 and CSPG2 do not associate with AAA.
      Title: The intracranial aneurysm susceptibility genes HSPG2 and CSPG2 are not associated with abdominal aortic aneurysm.
    8. 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.
      Title: Association of the HSPG2 gene with neuroleptic-induced tardive dyskinesia.
    9. 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.
      Title: Myeloperoxidase-derived oxidants selectively disrupt the protein core of the heparan sulfate proteoglycan perlecan.
    10. Observational study and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Association of the HSPG2 gene with neuroleptic-induced tardive dyskinesia.
    Submit: New GeneRIF Correction See all (43)
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

    Dyssegmental dysplasia, Silverman-Handmaker type

    Schwartz-Jampel syndrome, type 1

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    HIV-1 protein interactions

    Protein Gene Interaction Pubs
    Tat tat Perlecan mediates Tat uptake and is required for HIV-1 LTR-directed transactivation in the human colon carcinoma cell line, WiDr. PubMed

    Go to the HIV-1, Human Protein Interaction Database

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    P98160 P05067 APP    HPRD  PubMed  
    P98160 Activating transcription factor 7 interacting protein ATF7IP    HPRD  PubMed  
    P98160 P54259 ATN1    HPRD  PubMed  
    P98160 P13497 BMP1    HPRD  PubMed  
    P98160 Collagen, type XIII, alpha 1 COL13A1    HPRD  PubMed  
    P98160 P29279 CTGF    HPRD  PubMed  
    P98160 Q16610 ECM1    HPRD  PubMed  
    P98160 P23142 FBLN1    HPRD  PubMed  
    P98160 P98095 FBLN2    HPRD  PubMed  
    P98160 P35555 FBN1    HPRD  PubMed  
    P98160 P09038 FGF2    HPRD  PubMed  
    P98160 P21781 FGF7    HPRD  PubMed  
    P98160 Q14512 FGFBP1    HPRD  PubMed  
    P98160 Growth factor independent 1B GFI1B    HPRD  PubMed  
    P98160 P28799 GRN    HPRD  PubMed  
    P98160 P17301 ITGA2    HPRD  PubMed  
    P98160 P05556 ITGB1    HPRD  PubMed  
    P98160 P25391 LAMA1    HPRD  PubMed  
    P98160 P14543 NID1    HPRD  PubMed  
    P98160 Q14112 NID2    HPRD  PubMed  
    P98160 P04085 PDGFA    HPRD  PubMed  
    P98160 P01127 PDGFB    HPRD  PubMed  
    P98160 P51888 PRELP    HPRD  PubMed  
    P98160 O75400 PRPF40A    HPRD  PubMed  
    P98160 P09486 SPARC    HPRD  PubMed  
    P98160 P02766 TTR    HPRD  PubMed  
    P98160 WARP VWA1    HPRD  PubMed  
    BioGRID:109571 BioGRID:107227 CACNA1A    BioGRID  PubMed Two-hybrid 
    BioGRID:109571 BioGRID:108493 FBLN2    BioGRID  PubMed Reconstituted Complex 
    BioGRID:109571 BioGRID:108543 FGF7    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:109571 BioGRID:115304 FGFBP1    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:109571 BioGRID:108621 FN1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:109571 BioGRID:129792 LAMA1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:109571 BioGRID:116476 NID2    BioGRID  PubMed Reconstituted Complex 
    BioGRID:109571 BioGRID:111180 PDGFA    BioGRID  PubMed Reconstituted Complex 
    BioGRID:109571 BioGRID:111181 PDGFB    BioGRID  PubMed Reconstituted Complex 
    BioGRID:109571 BioGRID:111540 PRELP    BioGRID  PubMed Reconstituted Complex 
    BioGRID:109571 BioGRID:113127 TTR    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • Amyloids, organism-specific biosystem (from REACTOME)
      Amyloids, organism-specific biosystemAmyloid is a term used to describe typically extracellular deposits of aggregated proteins, sometimes known as plaques. Abnormal accumulation of amyloid is amyloidosis, a term associated with disease...
    • Chylomicron-mediated lipid transport, organism-specific biosystem (from REACTOME)
      Chylomicron-mediated lipid transport, organism-specific biosystemChylomicrons transport triacylglycerol, phospholipid, and cholesterol derived from dietary lipid from the small intestine to other tissues of the body. Each chylomicron assembles around a single mole...
    • Disease, organism-specific biosystem (from REACTOME)
      Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
    • ECM-receptor interaction, organism-specific biosystem (from KEGG)
      ECM-receptor interaction, organism-specific biosystemThe extracellular matrix (ECM) consists of a complex mixture of structural and functional macromolecules and serves an important role in tissue and organ morphogenesis and in the maintenance of cell ...
    • ECM-receptor interaction, conserved biosystem (from KEGG)
      ECM-receptor interaction, conserved biosystemThe extracellular matrix (ECM) consists of a complex mixture of structural and functional macromolecules and serves an important role in tissue and organ morphogenesis and in the maintenance of cell ...
    • Lipid digestion, mobilization, and transport, organism-specific biosystem (from REACTOME)
      Lipid digestion, mobilization, and transport, organism-specific biosystemProcesses annotated here include the digestion of dietary lipids, sterol uptake, the formation and turnover of lipoproteins (chylomicrons, VLDL, LDL, and HDL), and the mobilization of fatty acids thr...
    • Lipoprotein metabolism, organism-specific biosystem (from REACTOME)
      Lipoprotein metabolism, organism-specific biosystemBecause of their hydrophobicity, lipids are found in the extracellular spaces of the human body primarily in the form of lipoprotein complexes. Chylomicrons form in the small intestine and transport ...
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
      Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    lipoprotein lipase activity TAS
    Traceable Author Statement
    more info
    		  
    protein C-terminus binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    angiogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    brain development IEA
    Inferred from Electronic Annotation
    more info
    		  
    cardiac muscle tissue development IEA
    Inferred from Electronic Annotation
    more info
    		  
    cartilage development involved in endochondral bone morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    chondrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    embryonic skeletal system morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    endochondral ossification IEA
    Inferred from Electronic Annotation
    more info
    		  
    extracellular matrix organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    lipid metabolic process TAS
    Traceable Author Statement
    more info
    		  
    lipoprotein metabolic process TAS
    Traceable Author Statement
    more info
    		  
    protein localization IEA
    Inferred from Electronic Annotation
    more info
    		  
    small molecule metabolic process TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    basal lamina IEA
    Inferred from Electronic Annotation
    more info
    		  
    colocalizes_with extracellular matrix IDA
    Inferred from Direct Assay
    more info
    		  
    extracellular region TAS
    Traceable Author Statement
    more info
    		  
    extracellular space IDA
    Inferred from Direct Assay
    more info
    		  
    plasma membrane TAS
    Traceable Author Statement
    more info
    		  
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    General protein information

    Preferred Names
    basement membrane-specific heparan sulfate proteoglycan core protein
    Names
    basement membrane-specific heparan sulfate proteoglycan core protein
    perlecan proteoglycan
    endorepellin (domain V region)
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_016740.1 RefSeqGene

      Range
      5001..120014
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005529.5 → NP_005520.4  basement membrane-specific heparan sulfate proteoglycan core protein precursor

      Status: REVIEWED

      Source sequence(s)
      AA507437, AL590103, AL590556, BC033152, CA407545, CX165450, M85289, X62515
      Consensus CDS
      CCDS30625.1
      UniProtKB/Swiss-Prot
      P98160
      Related
      ENSP00000363827, OTTHUMP00000002765, ENST00000374695, OTTHUMT00000007598
      Conserved Domains (15) summary
      cd00054
      Location:3852 – 3881
      Blast Score: 108
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      cd00055
      Location:1158 – 1207
      Blast Score: 136
      EGF_Lam; Laminin-type epidermal growth factor-like domain; laminins are the major noncollagenous components of basement membranes that mediate cell adhesion, growth migration, and differentiation; the laminin-type epidermal growth factor-like module occurs in ...
      cd00110
      Location:4203 – 4362
      Blast Score: 346
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
      cd00112
      Location:285 – 319
      Blast Score: 148
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
      cd00096
      Location:2070 – 2131
      Blast Score: 146
      Ig; Immunoglobulin domain
      cd05743
      Location:421 – 498
      Blast Score: 396
      Ig_Perlecan_D2_like; Immunoglobulin (Ig)-like domain II (D2) of the human basement membrane heparan sulfate proteoglycan perlecan, also known as HSPG2
      cd05754
      Location:1771 – 1856
      Blast Score: 405
      Ig3_Perlecan_like; Third immunoglobulin (Ig)-like domain found in Perlecan and similar proteins
      pfam07679
      Location:3581 – 3658
      Blast Score: 193
      I-set; Immunoglobulin I-set domain
      smart00180
      Location:1209 – 1260
      Blast Score: 110
      EGF_Lam; Laminin-type epidermal growth factor-like domai
      cl02548
      Location:985 – 1112
      Blast Score: 465
      Laminin_B; Laminin B (Domain IV)
      pfam00053
      Location:1159 – 1206
      Blast Score: 150
      Laminin_EGF; Laminin EGF-like (Domains III and V)
      pfam07686
      Location:406 – 490
      Blast Score: 111
      V-set; Immunoglobulin V-set domain
      cl00104
      Location:335 – 359
      Blast Score: 100
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
      cl02507
      Location:80 – 194
      Blast Score: 247
      SEA; SEA domain
      cl11960
      Location:3596 – 3651
      Blast Score: 164
      Ig; Immunoglobulin domain

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000001.10 Reference GRCh37.p5 Primary Assembly

      Range
      22148737..22263750, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000133.1 Alternate HuRef

      Range
      20392206..20466222, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AL445795.1 CAC18534.1
    genomic AL590103.12 CAI12125.1
      CAI12129.1
      CAI12130.1
      CAI12131.1
      CAI12132.1
      CAI12134.1
      CAI12135.1
      CAI12136.1
    genomic AL590103.12 CAI12125.1
      CAI12129.1
      CAI12130.1
      CAI12131.1
      CAI12132.1
      CAI12134.1
      CAI12135.1
      CAI12136.1
    genomic AL590556.20 CAH71870.1
    genomic CH471134.1 EAW94994.1
      EAW94995.1
      EAW94996.1
      EAW94997.1
    genomic U41286.1 AAB95116.1
    mRNA AA507437.1 None
    mRNA AB209851.1 BAD93088.1
    mRNA AF479675.1 AAL79552.1
    mRNA AI131329.1 None
    mRNA AK126516.1 None
    mRNA BC033152.1 None
    mRNA BC109204.1 AAI09205.1
    mRNA BG056875.1 None
    mRNA CA407545.1 None
    mRNA CD518822.1 None
    mRNA CX165450.1 None
    mRNA M64283.1 AAA52699.1
    mRNA M85289.1 AAA52700.1
    mRNA S76436.1 AAB21121.2
    mRNA X62515.1 CAA44373.1
    Protein Accession Links
    GenePept Link UniProtKB Link
    O43834 GenPept UniProtKB/TrEMBL:O43834
    P98160.4 GenPept UniProtKB/Swiss-Prot:P98160
    Q2VPA1 GenPept UniProtKB/TrEMBL:Q2VPA1
    Q59EG0 GenPept UniProtKB/TrEMBL:Q59EG0
    Q5SZI5 GenPept UniProtKB/TrEMBL:Q5SZI5
    Q8TEU3 GenPept UniProtKB/TrEMBL:Q8TEU3
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    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
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