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Aliases for HSPG2 Gene

Aliases for HSPG2 Gene

  • Heparan Sulfate Proteoglycan 2 2 3 5
  • Perlecan Proteoglycan 2 3
  • HSPG 3 4
  • PLC 3 4
  • Basement Membrane-Specific Heparan Sulfate Proteoglycan Core Protein 3
  • 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 Glycosaminoglycan metabolism and Integrin 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 HMCN2.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for HSPG2 Gene

Genomics for HSPG2 Gene

GeneHancer (GH) Regulatory Elements for HSPG2 Gene

Promoters and enhancers for HSPG2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I021918 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 570.7 +7.5 7549 22.2 HDGF PKNOX1 CLOCK FOXA2 SMAD1 ARNT ZFP64 ARID4B SIN3A DMAP1 HSPG2 GC01P021930 USP48 CELA3B GC01M021926 RPL21P29
GH01I021893 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 29.9 +32.0 32003 22.6 HDGF HNRNPUL1 PKNOX1 SMAD1 MLX ARNT ZFP64 POLR2B ZNF766 CBX5 ZBTB40 HSPG2 LDLRAD2 CDC42-IT1 USP48 EPHB2 RPL21P29 GC01M021883
GH01I021331 Promoter/Enhancer 2.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.9 +598.1 598111 15.2 CLOCK MLX FEZF1 DMAP1 YBX1 IRF4 YY1 ZNF213 E2F8 ZNF416 ECE1 HP1BP3 NBPF3 USP48 NBPF2P CDC42-IT1 LDLRAD2 ENSG00000236936 HSPG2 MUL1
GH01I022023 Promoter/Enhancer 1.8 Ensembl ENCODE dbSUPER 11.4 -88.4 -88441 3.8 FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 ZNF263 SP3 MEF2D LINC00339 LINC01635 ZBTB40 CDC42-IT1 ENSG00000271428 KDM1A HSPG2 NBPF3 CDC42 WNT4
GH01I022018 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 11.3 -82.1 -82129 1.9 HDGF PKNOX1 ATF1 SMAD1 ARNT ZNF766 E2F8 FOS ATF7 RUNX3 LINC00339 HSPG2 WNT4 CDC42 ZBTB40 LINC01635 RNU6-776P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around HSPG2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HSPG2 gene promoter:

Genomic Locations for HSPG2 Gene

Genomic Locations for HSPG2 Gene
chr1:21,822,232-21,937,297
(GRCh38/hg38)
Size:
115,066 bases
Orientation:
Minus strand
chr1:22,148,737-22,263,790
(GRCh37/hg19)

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

  • 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.
  • Proteolytic processing produces the C-terminal angiogenic peptide, endorepellin. This peptide can be further processed to produce the LG3 peptide.
  • Glycosylation at posLast=4242, posLast=6565, posLast=7171, posLast=7676, isoforms=89, posLast=279279, isoforms=554, isoforms=914, posLast=915915, isoforms=1755, isoforms=2121, isoforms=2140, posLast=21452145, posLast=25292529, isoforms=2995, posLast=30723072, posLast=31053105, isoforms=3152, isoforms=3279, posLast=34123412, isoforms=3780, posLast=38363836, isoforms=3933, isoforms=4068, and isoforms=4179

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

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for HSPG2 Gene

Function for HSPG2 Gene

Molecular function for HSPG2 Gene

GENATLAS Biochemistry:
heparan sulfate proteoglycan 2 (64kDa),basement membrane,syndecan family,linking the cytoskeleton to interstitial matrix
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.

Phenotypes From GWAS Catalog for HSPG2 Gene

Gene Ontology (GO) - Molecular Function for HSPG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 11956183
GO:0008022 protein C-terminus binding IPI 12604605
GO:0046872 metal ion binding IEA --
GO:0050750 low-density lipoprotein particle receptor binding TAS 21289173
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

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 5
golgi apparatus 4
cytoskeleton 2
nucleus 2
cytosol 2

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 IDA,TAS --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005604 basement membrane TAS 8621634
GO:0005615 extracellular space IDA 20551380
GO:0005796 Golgi lumen 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

(70) 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 0
antipsychotics Pharma 0

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

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

Transcripts for HSPG2 Gene

mRNA/cDNA for HSPG2 Gene

(6) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(14) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HSPG2 Gene

Heparan sulfate proteoglycan 2:
Representative Sequences:

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, PaxDb, 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(3.2)
  • 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 34
  • 88.2 (n)
cow
(Bos Taurus)
Mammalia HSPG2 33 34
  • 87.17 (n)
chimpanzee
(Pan troglodytes)
Mammalia HSPG2 33 34
  • 85.26 (n)
mouse
(Mus musculus)
Mammalia Hspg2 33 16 34
  • 83.65 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia HSPG2 34
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HSPG2 34
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves HSPG2 33
  • 64.08 (n)
lizard
(Anolis carolinensis)
Reptilia HSPG2 34
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hspg2 33
  • 59.46 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.22044 33
zebrafish
(Danio rerio)
Actinopterygii hspg2 33 34
  • 56.81 (n)
fruit fly
(Drosophila melanogaster)
Insecta EG:BACR25B3.1 35
  • 35 (a)
EG:BACR25B3.10 35
  • 23 (a)
trol 34
  • 22 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea unc-52 35 33 34
  • 42.25 (n)
T19D12.6 34
  • 21 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4676 34
  • 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)

Paralogs for HSPG2 Gene

Paralogs for HSPG2 Gene

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 3_prime_UTR_variant
rs1049675 likely-benign, Schwartz Jampel syndrome type 1, Dyssegmental Dysplasia 21,822,324(-) G/A 3_prime_UTR_variant
rs111866498 uncertain-significance, not specified, Schwartz Jampel syndrome type 1, Dyssegmental Dysplasia 21,831,302(-) G/A coding_sequence_variant, synonymous_variant
rs112062179 likely-benign, uncertain-significance, not specified, Schwartz Jampel syndrome type 1, Dyssegmental Dysplasia 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
nsv954903 CNV deletion 24416366
nsv945815 CNV duplication 23825009
nsv834413 CNV loss 17160897
nsv834402 CNV loss 17160897
nsv545744 CNV loss 21841781
nsv545743 CNV loss 21841781
nsv545742 CNV loss 21841781
nsv545741 CNV gain 21841781
nsv545738 CNV loss 21841781
nsv515659 CNV loss 19592680
nsv509013 CNV insertion 20534489
nsv470706 CNV loss 18288195
nsv469549 CNV loss 16826518
nsv460795 CNV loss 19166990
nsv460784 CNV loss 19166990
nsv460762 CNV loss 19166990
nsv1143441 CNV deletion 24896259
nsv1110996 CNV tandem duplication 24896259
nsv1076248 CNV deletion 25765185
esv3577780 CNV loss 25503493
esv3556121 CNV deletion 23714750
esv34155 CNV loss 18971310
esv2758927 CNV loss 17122850
esv2660403 CNV deletion 23128226
esv1003020 CNV deletion 20482838
dgv180n54 CNV loss 21841781

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

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

Disorders for HSPG2 Gene

MalaCards: The human disease database

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

- 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
  • 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.
  • 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.

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 22 44 58
  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 58
  3. No replication of genetic association between candidate polymorphisms and Alzheimer's disease. (PMID: 19889475) Cousin E … Campion D (Neurobiology of aging 2011) 3 44 58
  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 44 58
  5. A genetic association study of maternal and fetal candidate genes that predispose to preterm prelabor rupture of membranes (PROM). (PMID: 20673868) Romero R … Menon R (American journal of obstetrics and gynecology 2010) 3 44 58

Products for HSPG2 Gene