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Gene : HSPG2 Homo sapiens

Name  ? heparan sulfate proteoglycan 2 Cytological Location  1p36.12
Brief Description  heparan sulfate proteoglycan 2
Description  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]
  • synonyms:
  • OTTHUMG00000002674,
  • HSPG,
  • NM_005529,
  • SJS,
  • uc001bfj.4,
  • M85289,
  • Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia),
  • perlecan proteoglycan,
  • PRCAN,
  • SJA,
  • SJS1,
  • PRCAN,
  • HGNC:5273,
  • SJS1,
  • PLC,
  • HSPG2,
  • perlecan
  • identifiers:
  • 3339,
  • ENSG00000142798,
  • HSPG2

Genome feature

Region: gene ? Length: 115067  
Location: 1:21822244-21937310 reverse strand Cyto location: 1p36.12


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

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Proteins

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SNPs

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Disease

2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

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Expression

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Other

3753 SN Ps

5 Cross References

20 Data Sets

2 Homologues

0 Located Features

97 Rna Seq Results