Version 5.4
| 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 | |||||||||||||||||||||||||||||||||||||||
| 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.
|
||||||||||||||||||||||||||||||||||||||
| Gene Ontology | |||||||||||||||||||||||||||||||||||||||
Molecular Function |
|
||||||||||||||||||||||||||||||||||||||
| Biological Process |
|
||||||||||||||||||||||||||||||||||||||
| Cellular Component |
|
||||||||||||||||||||||||||||||||||||||
| Orthologs | |||||||||||||||||||||||||||||||||||||||
|
Species
Mus musculus
Bos taurus
|
Gene ID
Gene Order
Not yet available
|
||||||||||||||||||||||||||||||||||||||
| Pathways | |||||||||||||||||||||||||||||||||||||||
| NETPATH | |||||||||||||||||||||||||||||||||||||||
| REACTOME |
Integrin cell surface interactions pathway
Retinoid metabolism and transport pathway
Chylomicron-mediated lipid transport pathway
A tetrasaccharide linker sequence is required for GAG synthesis pathway
HS-GAG degradation pathway
HS-GAG biosynthesis pathway
Amyloids pathway
Metabolism of lipids and lipoproteins pathway
Mucopolysaccharidoses pathway
Myoclonic epilepsy of Lafora pathway
Extracellular matrix organization pathway
Defective B4GALT7 causes EDS, progeroid type pathway
Defective CHST6 causes MCDC1 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
Defective SLC26A2 causes chondrodysplasias pathway
Signal Transduction 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
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
MPS IIIB - Sanfilippo syndrome B pathway
|
||||||||||||||||||||||||||||||||||||||
| KEGG |
ECM-receptor interaction pathway
|
||||||||||||||||||||||||||||||||||||||
| INOH |
Integrin signaling pathway pathway
Wnt signaling pathway pathway
|
||||||||||||||||||||||||||||||||||||||
| PID NCI | |||||||||||||||||||||||||||||||||||||||
| Cross-References | |||||||||||||||||||||||||||||||||||||||
| SwissProt | P98160 | ||||||||||||||||||||||||||||||||||||||
| TrEMBL | B6EU51 | ||||||||||||||||||||||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||||||||||||||||||||||
| Entrez Gene | 3339 | ||||||||||||||||||||||||||||||||||||||
| UniGene | Hs.562227 | ||||||||||||||||||||||||||||||||||||||
| RefSeq | NM_001291860 NM_005529 XM_005245863 XM_006710597 | ||||||||||||||||||||||||||||||||||||||
| HUGO | HGNC:5273 | ||||||||||||||||||||||||||||||||||||||
| OMIM | 142461 | ||||||||||||||||||||||||||||||||||||||
| CCDS | CCDS30625 | ||||||||||||||||||||||||||||||||||||||
| HPRD | 00804 | ||||||||||||||||||||||||||||||||||||||
| IMGT | |||||||||||||||||||||||||||||||||||||||
| EMBL | AL445795 AL590103 AL590556 L22078 M64283 M85289 S76436 X62515 | ||||||||||||||||||||||||||||||||||||||
| GenPept | AAA52699 AAA52700 AAB21121 ACI25723 CAA44373 CAC18534 CAH71870 CAI12125 | ||||||||||||||||||||||||||||||||||||||
| RNA Seq Atlas | 102723830 3339 | ||||||||||||||||||||||||||||||||||||||