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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 Phospholipase-C Pathway. 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

Regulatory Elements for HSPG2 Gene

Enhancers for HSPG2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H021893 1.9 FANTOM5 Ensembl ENCODE dbSUPER 29.9 +32.0 32003 22 HNRNPUL1 HDGF PKNOX1 MLX ARNT ZFP64 ZNF766 CBX5 ZNF143 FOS ZBTB40 HSPG2 CDC42-IT1 LDLRAD2 USP48 ENSG00000271428 EPHB2 RPL21P29 GC01M021883
GH01H021918 2 FANTOM5 Ensembl ENCODE dbSUPER 20.6 +7.5 7549 22 HDGF PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 SLC30A9 HSPG2 USP48 CELA3B GC01P021930 RPL21P29
GH01H022037 1.9 FANTOM5 Ensembl ENCODE dbSUPER 14.6 -103.4 -103404 6 HDGF PKNOX1 ARNT TCF12 ZNF121 ZNF766 GATA2 ZNF207 ATF7 RUNX3 LINC00339 HSPG2 ZBTB40 LDLRAD2 LINC01635 CDC42-IT1 USP48 GC01M022038 CDC42
GH01H021331 2.1 FANTOM5 Ensembl ENCODE dbSUPER 10.9 +598.1 598111 15 MLX FEZF1 DMAP1 YBX1 YY1 ZNF416 ZNF143 SP3 MCM3 NFYC HP1BP3 NBPF3 USP48 NBPF2P ECE1 CDC42-IT1 LDLRAD2 ENSG00000236936 HSPG2 MUL1
GH01H022018 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11.3 -82.1 -82130 1 HDGF PKNOX1 ATF1 ARNT ZNF766 ELK1 FOS ATF7 RUNX3 NCOA1 LINC00339 HSPG2 WNT4 CDC42 ZBTB40 LINC01635 RNU6-776P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HSPG2 on UCSC Golden Path with GeneCards custom track

Promoters for HSPG2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000002836 497 2001 HDGF ATF1 ARNT ZFP64 DMAP1 ZNF2 TCF12 ZNF766 GLIS2 ATF7

Genomic Location for HSPG2 Gene

Chromosome:
1
Start:
21,822,232 bp from pter
End:
21,937,297 bp from pter
Size:
115,066 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

  • 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, isoforms=65, posLast=7171, isoforms=76, posLast=8989, posLast=279279, isoforms=554, posLast=914914, posLast=915915, isoforms=1755, isoforms=2121, posLast=21402140, posLast=21452145, posLast=25292529, isoforms=2995, isoforms=3072, isoforms=3105, isoforms=3152, isoforms=3279, posLast=34123412, posLast=37803780, isoforms=3836, posLast=39333933, posLast=40684068, and isoforms=4179
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for HSPG2 (Endorepellin/Perlecan)

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

CRISPR Products

miRNA for HSPG2 Gene

miRTarBase miRNAs that target HSPG2

Inhibitory RNA 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 TAS --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005604 basement membrane TAS 8621634
GO:0005615 extracellular space IDA 16502470
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 binder, Target 0
calcium Nutra 0
antipsychotics Pharma 0

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

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:

CRISPR Products

Inhibitory RNA 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)

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
Organs:
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

Primer Products

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 Sequence Context AA Info Type
rs137853248 Pathogenic, Schwartz-Jampel syndrome (SJS1) [MIM:255800] 21,864,874(-) CCGCT(A/G)CCCGC reference, missense
rs762281715 Pathogenic 21,833,551(+) GGGTC(A/G)GACTG reference, stop-gained
rs778653296 Pathogenic 21,851,790(+) ACTCA(A/C/T)GGTAG splice-donor-variant
rs886041667 Pathogenic 21,880,518(-) GCGCG(-/CG)GAGCT reference, frameshift-variant
rs745452577 Likely pathogenic 21,865,798(+) CCACC(A/G)TAGGC reference, synonymous-codon

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)

Relevant External Links 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

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

Disorder Aliases PubMed IDs
schwartz-jampel syndrome, type 1
  • schwartz-jampel syndrome 1
dyssegmental dysplasia, silverman-handmaker type
  • silverman-handmaker type dyssegmental dysplasia
gas gangrene
  • gas bacillus infection
tardive dyskinesia
  • linguofacial dyskinesia
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
  • 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.

Relevant External Links for HSPG2

Genetic Association Database (GAD)
HSPG2
Human Genome Epidemiology (HuGE) Navigator
HSPG2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HSPG2
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 45 60
  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 60
  3. No replication of genetic association between candidate polymorphisms and Alzheimer's disease. (PMID: 19889475) Cousin E … Campion D (Neurobiology of aging 2011) 3 45 60
  4. Identification of fetal and maternal single nucleotide polymorphisms in candidate genes that predispose to spontaneous preterm labor with intact membranes. (PMID: 20452482) Romero R … Menon R (American journal of obstetrics and gynecology 2010) 3 45 60
  5. 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 45 60

Products for HSPG2 Gene

Sources for HSPG2 Gene

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