Homo sapiens Gene: HSPG2
Summary
InnateDB Gene IDBG-93439.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HSPG2
Gene Name heparan sulfate proteoglycan 2
Synonyms HSPG; PLC; PRCAN; SJA; SJS; SJS1;
Species Homo sapiens
Ensembl Gene ENSG00000142798
Encoded Proteins
heparan sulfate proteoglycan 2
heparan sulfate proteoglycan 2
heparan sulfate proteoglycan 2
heparan sulfate proteoglycan 2
heparan sulfate proteoglycan 2
heparan sulfate proteoglycan 2
heparan sulfate proteoglycan 2
heparan sulfate proteoglycan 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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 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.[provided by RefSeq, Mar 2010]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:21822245-21937297
Strand Reverse strand
Band p36.12
Transcripts
ENST00000374695 ENSP00000363827
ENST00000374676 ENSP00000363808
ENST00000374673 ENSP00000363805
ENST00000426143 ENSP00000392022
ENST00000453796 ENSP00000396310
ENST00000427897 ENSP00000397573
ENST00000412328 ENSP00000405412
ENST00000439717 ENSP00000395884
ENST00000486901
ENST00000481644
ENST00000469378
ENST00000471322
ENST00000493940
ENST00000498495
ENST00000480900
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 30 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 30 [view]
Protein-Protein 28 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 2 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0008022 protein C-terminus binding
GO:0046872 metal ion binding
Biological Process
GO:0001523 retinoid metabolic process
GO:0001525 angiogenesis
GO:0001958 endochondral ossification
GO:0002062 chondrocyte differentiation
GO:0005975 carbohydrate metabolic process
GO:0006024 glycosaminoglycan biosynthetic process
GO:0006027 glycosaminoglycan catabolic process
GO:0007420 brain development
GO:0007603 phototransduction, visible light
GO:0008104 protein localization
GO:0022617 extracellular matrix disassembly
GO:0030198 extracellular matrix organization
GO:0030203 glycosaminoglycan metabolic process
GO:0030204 chondroitin sulfate metabolic process
GO:0042157 lipoprotein metabolic process
GO:0044281 small molecule metabolic process
GO:0048704 embryonic skeletal system morphogenesis
GO:0048738 cardiac muscle tissue development
GO:0060351 cartilage development involved in endochondral bone morphogenesis
Cellular Component
GO:0005576 extracellular region
GO:0005578 proteinaceous extracellular matrix
GO:0005604 basement membrane
GO:0005605 basal lamina
GO:0005615 extracellular space
GO:0005796 Golgi lumen
GO:0005886 plasma membrane
GO:0031012 extracellular matrix
GO:0043202 lysosomal lumen
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Metabolism of lipids and lipoproteins pathway
Mucopolysaccharidoses pathway
HS-GAG degradation pathway
Myoclonic epilepsy of Lafora pathway
Extracellular matrix organization pathway
Defective B4GALT7 causes EDS, progeroid type pathway
Defective CHST6 causes MCDC1 pathway
A tetrasaccharide linker sequence is required for GAG synthesis pathway
MPS VI - Maroteaux-Lamy syndrome pathway
Defective PAPSS2 causes SEMD-PA pathway
Metabolism of carbohydrates pathway
Degradation of the extracellular matrix pathway
MPS IIID - Sanfilippo syndrome D pathway
Retinoid metabolism and transport pathway
Defective SLC26A2 causes chondrodysplasias pathway
Signal Transduction pathway
Amyloids pathway
HS-GAG biosynthesis pathway
MPS IX - Natowicz syndrome pathway
Defective EXT1 causes exostoses 1, TRPS2 and CHDS pathway
Defective CHST14 causes EDS, musculocontractural type pathway
Heparan sulfate/heparin (HS-GAG) metabolism pathway
Diseases associated with visual transduction pathway
Integrin cell surface interactions pathway
MPS IV - Morquio syndrome B pathway
Defective B3GAT3 causes JDSSDHD pathway
Non-integrin membrane-ECM interactions pathway
Defective CHST3 causes SEDCJD pathway
MPS IV - Morquio syndrome A pathway
Defective EXT2 causes exostoses 2 pathway
Diseases associated with glycosaminoglycan metabolism pathway
MPS II - Hunter syndrome pathway
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) pathway
Visual phototransduction pathway
Glycosaminoglycan metabolism pathway
Laminin interactions pathway
Lipoprotein metabolism pathway
Diseases of glycosylation pathway
Chondroitin sulfate/dermatan sulfate metabolism pathway
MPS VII - Sly syndrome pathway
Defective CHSY1 causes TPBS pathway
Metabolism pathway
MPS I - Hurler syndrome pathway
MPS IIIA - Sanfilippo syndrome A pathway
MPS IIIC - Sanfilippo syndrome C pathway
Lipid digestion, mobilization, and transport pathway
Disease pathway
Glycogen storage diseases pathway
Chylomicron-mediated lipid transport pathway
MPS IIIB - Sanfilippo syndrome B pathway
KEGG
ECM-receptor interaction pathway
INOH
Integrin signaling pathway pathway
Wnt signaling pathway pathway
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.562227
RefSeq NM_001291860 NM_005529 XM_005245863 XM_006710597
HUGO
OMIM
CCDS CCDS30625
HPRD 00804
IMGT
EMBL
GenPept
RNA Seq Atlas