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 ... See more...

Aliases for HSPG2 Gene

Aliases for HSPG2 Gene

  • Heparan Sulfate Proteoglycan 2 2 3 5
  • Basement Membrane-Specific Heparan Sulfate Proteoglycan Core Protein 3 4
  • Perlecan Proteoglycan 2 3
  • HSPG 3 4
  • PLC 3 4
  • Schwartz-Jampel Syndrome 1 (Chondrodystrophic Myotonia) 2
  • Endorepellin (Domain V Region) 3
  • Perlecan 4
  • PRCAN 3
  • SJS1 3
  • SJA 3
  • SJS 3

External Ids for HSPG2 Gene

Previous HGNC Symbols for HSPG2 Gene

  • SJS1

Previous GeneCards Identifiers for HSPG2 Gene

  • GC01M021719
  • GC01M021183
  • GC01M021294
  • GC01M021619
  • GC01M021620
  • GC01M021894
  • GC01M022021
  • GC01M022148
  • GC01M020392

Summaries for HSPG2 Gene

Entrez Gene Summary for HSPG2 Gene

  • This gene encodes the perlecan protein, which consists of a core protein to which three long chains of glycosaminoglycans (heparan sulfate or chondroitin sulfate) are attached. The perlecan protein is a large multidomain proteoglycan that binds to and cross-links many extracellular matrix components and cell-surface molecules. It has been shown that this protein interacts with laminin, prolargin, collagen type IV, FGFBP1, FBLN2, FGF7 and transthyretin, etc., and 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]

GeneCards Summary for HSPG2 Gene

HSPG2 (Heparan Sulfate Proteoglycan 2) is a Protein Coding gene. Diseases associated with HSPG2 include Schwartz-Jampel Syndrome, Type 1 and Dyssegmental Dysplasia, Silverman-Handmaker Type. Among its related pathways are Chondroitin sulfate/dermatan sulfate metabolism and Development FGFR signaling pathway. Gene Ontology (GO) annotations related to this gene include calcium ion binding and protein C-terminus binding. An important paralog of this gene is LAMA1.

UniProtKB/Swiss-Prot Summary for HSPG2 Gene

  • 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.
  • 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.
  • The LG3 peptide has anti-angiogenic properties that require binding of calcium ions for full activity.

Gene Wiki entry for HSPG2 Gene

Additional gene information for HSPG2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HSPG2 Gene

Genomics for HSPG2 Gene

GeneHancer (GH) Regulatory Elements for HSPG2 Gene

Promoters and enhancers for HSPG2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HSPG2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HSPG2 gene promoter:
  • AML1a
  • ARP-1
  • E47
  • Egr-3
  • Elk-1
  • Msx-1
  • MZF-1
  • N-Myc
  • POU3F1
  • Tal-1

Genomic Locations for HSPG2 Gene

Genomic Locations for HSPG2 Gene
chr1:21,822,232-21,937,310
(GRCh38/hg38)
Size:
115,079 bases
Orientation:
Minus strand
chr1:22,148,737-22,263,790
(GRCh37/hg19)
Size:
115,054 bases
Orientation:
Minus strand

Genomic View for HSPG2 Gene

Genes around HSPG2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HSPG2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HSPG2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HSPG2 Gene

Proteins for HSPG2 Gene

  • Protein details for HSPG2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P98160-PGBM_HUMAN
    Recommended name:
    Basement membrane-specific heparan sulfate proteoglycan core protein
    Protein Accession:
    P98160
    Secondary Accessions:
    • Q16287
    • Q5SZI3
    • Q9H3V5

    Protein attributes for HSPG2 Gene

    Size:
    4391 amino acids
    Molecular mass:
    468830 Da
    Quaternary structure:
    • 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).
    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.

    Three dimensional structures from OCA and Proteopedia for HSPG2 Gene

neXtProt entry for HSPG2 Gene

Post-translational modifications for HSPG2 Gene

  • Proteolytic processing produces the C-terminal angiogenic peptide, endorepellin. This peptide can be further processed to produce the LG3 peptide.
  • N- and O-glycosylated. O-glycosylated with core 1 or possibly core 8 glycans. Perlecan contains three heparan sulfate chains. The LG3 peptide contains at least three and up to five potential O-glycosylation sites but no N-glycosylation.
  • Glycosylation at Thr42, Ser65, Ser71, Ser76, Asn89, Thr269, Ser279, Asn554, Ser914, Thr915, Asn1755, Asn2121, Thr2138, Ser2140, Thr2145, Ser2150, Thr2151, Ser2529, Ser2995, Asn3072, Asn3105, Thr3152, Asn3279, Ser3412, Asn3780, Asn3836, Ser3933, Asn4068, and Ser4179
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • PGBM_HUMAN (653)

Antibody Products

  • Biorbyt antibodies for HSPG2

No data available for DME Specific Peptides for HSPG2 Gene

Domains & Families for HSPG2 Gene

Gene Families for HSPG2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for HSPG2 Gene

GenScript: Design optimal peptide antigens:
  • Perlecan proteoglycan 2 (B6EU51_HUMAN)
  • Heparan sulfate proteoglycan (O43834_HUMAN)
  • Perlecan (PGBM_HUMAN)
  • HSPG2 protein (Q2VPA1_HUMAN)
  • Heparan sulfate proteoglycan 2 (Q5SZI5_HUMAN)
genes like me logo Genes that share domains with HSPG2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for HSPG2 Gene

Function for HSPG2 Gene

Molecular function for HSPG2 Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Function:
The LG3 peptide has anti-angiogenic properties that require binding of calcium ions for full activity.
GENATLAS Biochemistry:
heparan sulfate proteoglycan 2 (64kDa),basement membrane,syndecan family,linking the cytoskeleton to interstitial matrix

Phenotypes From GWAS Catalog for HSPG2 Gene

Gene Ontology (GO) - Molecular Function for HSPG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001540 amyloid-beta binding IC 21289173
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI,IEA 11956183
GO:0008022 protein C-terminus binding IPI 12604605
GO:0030021 extracellular matrix structural constituent conferring compression resistance RCA 20551380
genes like me logo Genes that share ontologies with HSPG2: view
genes like me logo Genes that share phenotypes with HSPG2: view

Human Phenotype Ontology for HSPG2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for HSPG2 Gene

MGI Knock Outs for HSPG2:

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for HSPG2 Gene

Localization for HSPG2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HSPG2 Gene

Secreted, extracellular space, extracellular matrix, basement membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HSPG2 gene
Compartment Confidence
plasma membrane 5
extracellular 5
lysosome 4
golgi apparatus 4
nucleus 2
cytoskeleton 1
endoplasmic reticulum 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HSPG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region HDA,TAS --
GO:0005604 basement membrane TAS 8621634
GO:0005615 extracellular space HDA 16502470
GO:0005796 Golgi lumen TAS --
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with HSPG2: view

Pathways & Interactions for HSPG2 Gene

genes like me logo Genes that share pathways with HSPG2: view

SIGNOR curated interactions for HSPG2 Gene

Activates:

Gene Ontology (GO) - Biological Process for HSPG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001523 retinoid metabolic process TAS --
GO:0001525 angiogenesis IEA --
GO:0006024 glycosaminoglycan biosynthetic process TAS --
GO:0006027 glycosaminoglycan catabolic process TAS --
GO:0006629 lipid metabolic process TAS 21289173
genes like me logo Genes that share ontologies with HSPG2: view

Drugs & Compounds for HSPG2 Gene

(73) Drugs for HSPG2 Gene - From: DrugBank, PharmGKB, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Palifermin Approved Pharma Target, binder 0
Calcium Approved Nutra 7773
(3s)-3,4-Di-N-Hexanoyloxybutyl-1-Phosphocholine Experimental Pharma Target 0
1,2-Di-N-Pentanoyl-Sn-Glycero-3-Dithiophosphocholine Experimental Pharma Target 0
antipsychotics Pharma 0

(69) Additional Compounds for HSPG2 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
heparan sulfate
  • Heparan sulfuric acid
  • Heparan sulphate
  • Heparan sulphuric acid
  • alpha-Idosane
  • Heparan N-sulfate
9050-30-0
genes like me logo Genes that share compounds with HSPG2: view

Transcripts for HSPG2 Gene

mRNA/cDNA for HSPG2 Gene

(2) REFSEQ mRNAs :
(17) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(15) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for HSPG2 Gene

No ASD Table

Relevant External Links for HSPG2 Gene

GeneLoc Exon Structure for
HSPG2
ECgene alternative splicing isoforms for
HSPG2

Expression for HSPG2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HSPG2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HSPG2 Gene

This gene is overexpressed in Artery - Tibial (x4.1).

Protein differential expression in normal tissues from HIPED for HSPG2 Gene

This gene is overexpressed in Urinary Bladder (16.4), Colon muscle (8.8), and Adipocyte (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HSPG2 Gene



Protein tissue co-expression partners for HSPG2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HSPG2 Gene:

HSPG2

SOURCE GeneReport for Unigene cluster for HSPG2 Gene:

Hs.562227

mRNA Expression by UniProt/SwissProt for HSPG2 Gene:

P98160-PGBM_HUMAN
Tissue specificity: Found in the basement membranes.

Evidence on tissue expression from TISSUES for HSPG2 Gene

  • Adrenal gland(5)
  • Gall bladder(5)
  • Heart(5)
  • Intestine(5)
  • Kidney(5)
  • Liver(5)
  • Lung(5)
  • Pancreas(5)
  • Skin(4.7)
  • Eye(4.5)
  • Bone marrow(4.2)
  • Nervous system(3.3)
  • Muscle(3)
  • Blood(2.2)
  • Bone(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HSPG2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • skull
  • tongue
  • vocal cord
Thorax:
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • intestine
Pelvis:
  • pelvis
  • testicle
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with HSPG2: view

Orthologs for HSPG2 Gene

This gene was present in the common ancestor of animals.

Orthologs for HSPG2 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia HSPG2 33 32
  • 88.2 (n)
OneToOne
cow
(Bos Taurus)
Mammalia HSPG2 33 32
  • 87.17 (n)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HSPG2 33 32
  • 85.26 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Hspg2 17 33 32
  • 83.65 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia HSPG2 33
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HSPG2 33
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves HSPG2 32
  • 64.08 (n)
lizard
(Anolis carolinensis)
Reptilia HSPG2 33
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hspg2 32
  • 59.46 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.22044 32
zebrafish
(Danio rerio)
Actinopterygii hspg2 33 32
  • 56.81 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta EG:BACR25B3.1 34
  • 35 (a)
EG:BACR25B3.10 34
  • 23 (a)
trol 33
  • 22 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea unc-52 33 34 32
  • 42.25 (n)
OneToMany
T19D12.6 33
  • 21 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4676 33
  • 30 (a)
OneToOne
Species where no ortholog for HSPG2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HSPG2 Gene

ENSEMBL:
Gene Tree for HSPG2 (if available)
TreeFam:
Gene Tree for HSPG2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HSPG2: view image

Paralogs for HSPG2 Gene

(16) SIMAP similar genes for HSPG2 Gene using alignment to 12 proteins:

  • PGBM_HUMAN
  • B6EU51_HUMAN
  • H0Y3B2_HUMAN
  • H0Y5A9_HUMAN
  • H7BYA5_HUMAN
  • H7C4A6_HUMAN
  • O43834_HUMAN
  • Q2VPA1_HUMAN
  • Q5SZI5_HUMAN
  • Q5SZI9_HUMAN
  • Q5SZJ1_HUMAN
  • Q5SZJ2_HUMAN

Pseudogenes.org Pseudogenes for HSPG2 Gene

genes like me logo Genes that share paralogs with HSPG2: view

Variants for HSPG2 Gene

Sequence variations from dbSNP and Humsavar for HSPG2 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1049644 benign, Schwartz Jampel syndrome type 1, Dyssegmental Dysplasia 21,822,690(-) G/C/T 3_prime_UTR_variant
rs1049675 likely-benign, Schwartz Jampel syndrome type 1, Dyssegmental Dysplasia 21,822,324(-) G/A 3_prime_UTR_variant
rs111866498 conflicting-interpretations-of-pathogenicity, uncertain-significance, not provided, Schwartz Jampel syndrome type 1, Dyssegmental Dysplasia 21,831,302(-) G/A coding_sequence_variant, synonymous_variant
rs112062179 likely-benign, uncertain-significance, benign-likely-benign, not specified, Schwartz Jampel syndrome type 1, Dyssegmental Dysplasia, not provided 21,833,508(-) C/T coding_sequence_variant, missense_variant
rs112494360 likely-benign, Dyssegmental Dysplasia, Schwartz Jampel syndrome type 1 21,831,052(-) G/A/C coding_sequence_variant, stop_gained, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for HSPG2 Gene

Variant ID Type Subtype PubMed ID
dgv180n54 CNV loss 21841781
esv1003020 CNV deletion 20482838
esv2660403 CNV deletion 23128226
esv2758927 CNV loss 17122850
esv34155 CNV loss 18971310
esv3556121 CNV deletion 23714750
esv3577780 CNV loss 25503493
nsv1076248 CNV deletion 25765185
nsv1110996 CNV tandem duplication 24896259
nsv1143441 CNV deletion 24896259
nsv460762 CNV loss 19166990
nsv460784 CNV loss 19166990
nsv460795 CNV loss 19166990
nsv469549 CNV loss 16826518
nsv470706 CNV loss 18288195
nsv509013 CNV insertion 20534489
nsv515659 CNV loss 19592680
nsv545738 CNV loss 21841781
nsv545741 CNV gain 21841781
nsv545742 CNV loss 21841781
nsv545743 CNV loss 21841781
nsv545744 CNV loss 21841781
nsv834402 CNV loss 17160897
nsv834413 CNV loss 17160897
nsv945815 CNV duplication 23825009
nsv954903 CNV deletion 24416366

Variation tolerance for HSPG2 Gene

Residual Variation Intolerance Score: 99.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 17.20; 98.09% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HSPG2 Gene

Human Gene Mutation Database (HGMD)
HSPG2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HSPG2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HSPG2 Gene

Disorders for HSPG2 Gene

MalaCards: The human disease database

(36) MalaCards diseases for HSPG2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
schwartz-jampel syndrome, type 1
  • kniest-like dysplasia with pursed lips and ectopia lentis
dyssegmental dysplasia, silverman-handmaker type
  • ddsh
gas gangrene
  • gas bacillus infection
tardive dyskinesia
  • td
myotonia
- elite association - COSMIC cancer census association via MalaCards
Search HSPG2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PGBM_HUMAN
  • Schwartz-Jampel syndrome (SJS1) [MIM:255800]: Rare autosomal recessive disorder characterized by permanent myotonia (prolonged failure of muscle relaxation) and skeletal dysplasia, resulting in reduced stature, kyphoscoliosis, bowing of the diaphyses and irregular epiphyses. {ECO:0000269 PubMed:11101850}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Dyssegmental dysplasia Silverman-Handmaker type (DDSH) [MIM:224410]: The dyssegmental dysplasias are rare, autosomal recessive skeletal dysplasias with anisospondyly and micromelia. There are two recognized types: the severe, lethal DDSH and the milder Rolland-Desbuquois form. Individuals with DDSH also have a flat face, micrognathia, cleft palate and reduced joint mobility, and frequently have an encephalocoele. The endochondral growth plate is short, the calcospherites (which are spherical calcium-phosphorus crystals produced by hypertrophic chondrocytes) are unfused, and there is mucoid degeneration of the resting cartilage. {ECO:0000269 PubMed:11279527}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for HSPG2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with HSPG2: view

No data available for Genatlas for HSPG2 Gene

Publications for HSPG2 Gene

  1. An association study of a polymorphism in the heparan sulfate proteoglycan gene (perlecan, HSPG2) and Alzheimer's disease. (PMID: 15211644) Rosenmann H … Abramsky O (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2004) 3 23 43 56
  2. 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. (PMID: 1685141) Kallunki P … Tryggvason K (Genomics 1991) 2 3 4 56
  3. No replication of genetic association between candidate polymorphisms and Alzheimer's disease. (PMID: 19889475) Cousin E … Campion D (Neurobiology of aging 2011) 3 43 56
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 43 56
  5. Association of the HSPG2 gene with neuroleptic-induced tardive dyskinesia. (PMID: 20072119) Syu A … Arinami T (Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology 2010) 3 43 56

Products for HSPG2 Gene