Human Gene HSPG2 (uc009vqe.1) Description and Page Index
Description: Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA. RefSeq Summary (NM_005529): 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]. Transcript (Including UTRs) Position: hg19 chr1:22,213,708-22,222,803 Size: 9,096 Total Exon Count: 6 Strand: - Coding Region Position: hg19 chr1:22,213,919-22,222,731 Size: 8,813 Coding Exon Count: 5
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): HSPG2 CDC HuGE Published Literature: HSPG2 Positive Disease Associations: periodontitis Related Studies:
periodontitis Suzuki A 2004, Single nucleotide polymorphisms associated with aggressive periodontitis and severe chronic periodontitis in Japanese., Biochemical and biophysical research communications. 2004 May;317(3):887-92.
These appear to be good candidates as genetic factors for future study.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Protein Domain and Structure Information
ModBase Predicted Comparative 3D Structure on Q5SZI5
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.