unc-52

Caenorhabditis elegans

An extracellular matrix structural constituent. Involved in several processes, including hemidesmosome assembly; muscle cell cellular homeostasis; and muscle structure development. Located in basement membrane and striated muscle dense body. Expressed in alimentary muscle; body wall musculature; gonad; and pharyngeal-intestinal valve. Human ortholog(s) of this gene implicated in several diseases, including Schwartz-Jampel syndrome 1; Silverman-Handmaker type dyssegmental dysplasia; and hyperglycemia. Is an ortholog of human HSPG2 (heparan sulfate proteoglycan 2).

Hspg2

Rattus norvegicus

Enables collagen V binding activity. Involved in several processes, including animal organ regeneration; embryo implantation; and positive regulation of endothelial cell proliferation. Located in collagen-containing extracellular matrix. Biomarker of hypertension. Human ortholog(s) of this gene implicated in Schwartz-Jampel syndrome 1; Silverman-Handmaker type dyssegmental dysplasia; and osteochondrodysplasia. Orthologous to human HSPG2 (heparan sulfate proteoglycan 2); PARTICIPATES IN Hedgehog signaling pathway; INTERACTS WITH 17alpha-ethynylestradiol; 2,2,2-tetramine; atrazine.

Hspg2

Homo sapiens

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]