HSPG2
LOCUS ID3339
GENE_SYMBOLHSPG2
GENE NAMEheparan sulfate proteoglycan 2
SYNONYMNSPLC, SJA, SJS, HSPG, SJS1, PRCAN
CHROMOSOME1
HOMOLOGENE ID68473
microRNAsNANA
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 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. Altertive splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014]

OBSERVATIONS

Complication Evidence PMID
Nephropathy1. Variants in or near ACE, AKR1B1 (two variants), APOC1, APOE, EPO, NOS3 (two variants), HSPG2, VEGFA, FRMD3 (two variants), CARS (two variants), CPVL and CHN2, UNC13B and GREM1, as well as four variants not near known genes, were associated with diabetic nephropathy.21127830