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    HSPG2 heparan sulfate proteoglycan 2 [ Homo sapiens (human) ]

    Gene ID: 3339, updated on 10-Dec-2024

    Summary

    Official Symbol
    HSPG2provided by HGNC
    Official Full Name
    heparan sulfate proteoglycan 2provided by HGNC
    Primary source
    HGNC:HGNC:5273
    See related
    Ensembl:ENSG00000142798 MIM:142461; AllianceGenome:HGNC:5273
    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 it 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. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014]
    Expression
    Broad expression in fat (RPKM 67.9), gall bladder (RPKM 21.5) and 21 other tissues See more
    Orthologs
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    Genomic context

    See HSPG2 in Genome Data Viewer
    Location:
    1p36.12
    Exon count:
    103
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (21822244..21937310, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (21646052..21761123, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (22148737..22263803, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr1:21928741-21928970 Neighboring gene Sharpr-MPRA regulatory region 12165 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:21937517-21938264 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:21939576-21939868 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:21945135-21945976 Neighboring gene RAP1 GTPase activating protein Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:21958265-21959233 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:21960338-21961086 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:21961087-21961835 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:21966135-21966964 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:21977615-21978365 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 384 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 385 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 386 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:21992551-21993051 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 387 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:21996570-21997769 Neighboring gene ubiquitin specific peptidase 48 Neighboring gene uncharacterized LOC124904736 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 388 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 336 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:22099067-22099566 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 337 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:22108688-22109459 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:22109460-22110230 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:22112153-22112327 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:22137244-22137394 Neighboring gene Sharpr-MPRA regulatory region 6146 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 390 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22148116-22148982 Neighboring gene low density lipoprotein receptor class A domain containing 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22168222-22168722 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22170194-22170694 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22174882-22175382 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22175383-22175883 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:22178409-22179608 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:22191053-22191858 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:22191859-22192664 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 341 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:22235910-22236626 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:22236627-22237342 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:22237343-22238058 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:22241885-22242040 Neighboring gene Sharpr-MPRA regulatory region 4422 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22246290-22246830 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:22247372-22247912 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:22248108-22248275 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:22248994-22249533 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:22254196-22254752 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:22254753-22255307 Neighboring gene ribosomal protein L21 pseudogene 29 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22258036-22258798 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22262253-22263094 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 391 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:22271072-22271789 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:22288389-22289052 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:22290537-22290804 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22312621-22313122 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:22313123-22313622 Neighboring gene RNA, U6 small nuclear 1022, pseudogene Neighboring gene RNA, 7SL, cytoplasmic 386, pseudogene Neighboring gene chymotrypsin like elastase 3B

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Lethal Kniest-like syndrome
    MedGen: C1857100 OMIM: 224410 GeneReviews: Not available
    Compare labs
    Schwartz-Jampel syndrome type 1
    MedGen: C4551479 OMIM: 255800 GeneReviews: Not available
    Compare labs

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 SF33 Env (gp120) binds to HSPG2 in polarized infant tonsil cells as shown through immunoprecipitation PubMed
    env HSPG interacts strongly with positively charged-V3 loop of X4-tropic gp120, but weakly with less positively charged-V3 loop of R5-tropic gp120 on epithelial cells PubMed
    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 Interaction Database

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in angiogenesis  
    involved_in animal organ regeneration  
    involved_in brain development PubMed 
    involved_in cell differentiation PubMed 
    involved_in circulatory system development PubMed 
    involved_in embryo implantation  
    involved_in inflammatory response PubMed 
    involved_in lipid metabolic process PubMed 
    involved_in negative regulation of amyloid fibril formation PubMed 
    involved_in negative regulation of angiogenesis PubMed 
    involved_in negative regulation of cell adhesion  
    involved_in negative regulation of cell population proliferation  
    involved_in negative regulation of neuron apoptotic process PubMed 
    involved_in positive regulation of endothelial cell proliferation  
    involved_in receptor-mediated endocytosis  
    involved_in response to hypoxia  
    involved_in response to xenobiotic stimulus  
    involved_in smoothened signaling pathway  

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      4948..120014
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001291860.2NP_001278789.1  basement membrane-specific heparan sulfate proteoglycan core protein isoform a precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AA450342, AL590103, AL590556, BC033152, BE273742, M85289, X62515
      Conserved Domains (18) summary
      cd00096
      Location:31313200
      Ig; Immunoglobulin domain
      cd05743
      Location:421498
      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:17721857
      Ig3_Perlecan_like; Third immunoglobulin (Ig)-like domain found in Perlecan and similar proteins
      smart00408
      Location:19712033
      IGc2; Immunoglobulin C-2 Type
      smart00200
      Location:80194
      SEA; Domain found in sea urchin sperm protein, enterokinase, agrin
      smart00281
      Location:9861113
      LamB; Laminin B domain
      smart00409
      Location:414490
      IG; Immunoglobulin
      smart00410
      Location:20582135
      IG_like; Immunoglobulin like
      cd00054
      Location:38533882
      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:11591208
      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:42044363
      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:285319
      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 ...
      pfam07679
      Location:35823659
      I-set; Immunoglobulin I-set domain
      pfam00008
      Location:41094139
      EGF; EGF-like domain
      pfam00047
      Location:30273107
      ig; Immunoglobulin domain
      pfam00053
      Location:12761323
      Laminin_EGF; Laminin EGF domain
      pfam13895
      Location:29303010
      Ig_2; Immunoglobulin domain
      cl11960
      Location:35973652
      Ig; Immunoglobulin domain
    2. NM_005529.7NP_005520.4  basement membrane-specific heparan sulfate proteoglycan core protein isoform b precursor

      See identical proteins and their annotated locations for NP_005520.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in an isoform (b) that is 1 aa shorter than isoform a.
      Source sequence(s)
      AA450342, AL590103, AL590556, BC033152, BE273742, M85289, X62515
      Consensus CDS
      CCDS30625.1
      UniProtKB/Swiss-Prot
      P98160, Q16287, Q5SZI3, Q9H3V5
      Related
      ENSP00000363827.3, ENST00000374695.8
      Conserved Domains (18) summary
      cd00096
      Location:31303199
      Ig; Immunoglobulin domain
      cd05743
      Location:421498
      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:17711856
      Ig3_Perlecan_like; Third immunoglobulin (Ig)-like domain found in Perlecan and similar proteins
      smart00408
      Location:19702032
      IGc2; Immunoglobulin C-2 Type
      smart00200
      Location:80194
      SEA; Domain found in sea urchin sperm protein, enterokinase, agrin
      smart00281
      Location:9851112
      LamB; Laminin B domain
      smart00409
      Location:414490
      IG; Immunoglobulin
      smart00410
      Location:20572134
      IG_like; Immunoglobulin like
      cd00054
      Location:38523881
      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:11581207
      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:42034362
      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:285319
      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 ...
      pfam07679
      Location:35813658
      I-set; Immunoglobulin I-set domain
      pfam00008
      Location:41084138
      EGF; EGF-like domain
      pfam00047
      Location:30263106
      ig; Immunoglobulin domain
      pfam00053
      Location:12751322
      Laminin_EGF; Laminin EGF domain
      pfam13895
      Location:29293009
      Ig_2; Immunoglobulin domain
      cl11960
      Location:35963651
      Ig; Immunoglobulin domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      21822244..21937310 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047419090.1XP_047275046.1  basement membrane-specific heparan sulfate proteoglycan core protein isoform X3

    2. XM_047419080.1XP_047275036.1  basement membrane-specific heparan sulfate proteoglycan core protein isoform X2

    3. XM_011541318.3XP_011539620.1  basement membrane-specific heparan sulfate proteoglycan core protein isoform X1

      Conserved Domains (18) summary
      cd00096
      Location:33133382
      Ig; Immunoglobulin domain
      cd05743
      Location:438515
      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:19542039
      Ig3_Perlecan_like; Third immunoglobulin (Ig)-like domain found in Perlecan and similar proteins
      smart00408
      Location:21532215
      IGc2; Immunoglobulin C-2 Type
      smart00200
      Location:80193
      SEA; Domain found in sea urchin sperm protein, enterokinase, agrin
      smart00281
      Location:10031130
      LamB; Laminin B domain
      smart00409
      Location:431507
      IG; Immunoglobulin
      smart00410
      Location:22402317
      IG_like; Immunoglobulin like
      cd00054
      Location:40354064
      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:11761225
      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:43864545
      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:302336
      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 ...
      pfam07679
      Location:37643841
      I-set; Immunoglobulin I-set domain
      pfam00008
      Location:42914321
      EGF; EGF-like domain
      pfam00047
      Location:32093289
      ig; Immunoglobulin domain
      pfam00053
      Location:12931340
      Laminin_EGF; Laminin EGF domain
      pfam13895
      Location:31123192
      Ig_2; Immunoglobulin domain
      cl11960
      Location:37793834
      Ig; Immunoglobulin domain
    4. XM_017001122.1XP_016856611.1  basement membrane-specific heparan sulfate proteoglycan core protein isoform X7

    5. XM_017001121.1XP_016856610.1  basement membrane-specific heparan sulfate proteoglycan core protein isoform X6

    6. XM_047419091.1XP_047275047.1  basement membrane-specific heparan sulfate proteoglycan core protein isoform X5

    7. XM_017001120.1XP_016856609.1  basement membrane-specific heparan sulfate proteoglycan core protein isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      21646052..21761123 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054336237.1XP_054192212.1  basement membrane-specific heparan sulfate proteoglycan core protein isoform X3

    2. XM_054336236.1XP_054192211.1  basement membrane-specific heparan sulfate proteoglycan core protein isoform X2

    3. XM_054336235.1XP_054192210.1  basement membrane-specific heparan sulfate proteoglycan core protein isoform X1

    4. XM_054336241.1XP_054192216.1  basement membrane-specific heparan sulfate proteoglycan core protein isoform X7

    5. XM_054336240.1XP_054192215.1  basement membrane-specific heparan sulfate proteoglycan core protein isoform X6

    6. XM_054336239.1XP_054192214.1  basement membrane-specific heparan sulfate proteoglycan core protein isoform X5

    7. XM_054336238.1XP_054192213.1  basement membrane-specific heparan sulfate proteoglycan core protein isoform X4

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