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

Gene ID: 3339, updated on 18-Aug-2020

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
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

Genomic context

See HSPG2 in Genome Data Viewer
Location:
1p36.12
Exon count:
103
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (21822244..21937310, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (22148737..22263750, complement)

Chromosome 1 - NC_000001.11Genomic 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 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: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
amyloid-beta binding IC
Inferred by Curator
more info
PubMed 
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
extracellular matrix structural constituent conferring compression resistance ISS
Inferred from Sequence or Structural Similarity
more info
 
extracellular matrix structural constituent conferring compression resistance RCA
inferred from Reviewed Computational Analysis
more info
PubMed 
low-density lipoprotein particle receptor binding TAS
Traceable Author Statement
more info
PubMed 
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
 
animal organ morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
brain development TAS
Traceable Author Statement
more info
PubMed 
cell differentiation TAS
Traceable Author Statement
more info
PubMed 
cellular protein metabolic process TAS
Traceable Author Statement
more info
 
circulatory system development TAS
Traceable Author Statement
more info
PubMed 
extracellular matrix organization TAS
Traceable Author Statement
more info
 
glycosaminoglycan biosynthetic process TAS
Traceable Author Statement
more info
 
glycosaminoglycan catabolic process TAS
Traceable Author Statement
more info
 
inflammatory response TAS
Traceable Author Statement
more info
PubMed 
lipid metabolic process TAS
Traceable Author Statement
more info
PubMed 
negative regulation of angiogenesis TAS
Traceable Author Statement
more info
PubMed 
receptor-mediated endocytosis ISS
Inferred from Sequence or Structural Similarity
more info
 
retinoid metabolic process TAS
Traceable Author Statement
more info
 
tissue development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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

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
    4961..120026
    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
    UniProtKB/Swiss-Prot
    P98160
    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
    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: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011541318.2XP_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
  2. XM_017001122.1XP_016856611.1  basement membrane-specific heparan sulfate proteoglycan core protein isoform X4

  3. XM_017001121.1XP_016856610.1  basement membrane-specific heparan sulfate proteoglycan core protein isoform X3

  4. XM_017001120.1XP_016856609.1  basement membrane-specific heparan sulfate proteoglycan core protein isoform X2

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