HSPG2
heparan sulfate proteoglycan 2
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. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014]
Known Variants2,577 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs371757519 | 1:22,148,741 | G/A | — | uncertain significance |
| rs529474269 | 1:22,148,791 | T/G | — | likely benign |
| rs1049675 | 1:22,148,817 | G/A | — | benign |
| rs2097953957 | 1:22,148,874 | G/C | — | uncertain significance |
| rs886046025 | 1:22,148,905 | C/T | — | uncertain significance |
| rs151090850 | 1:22,148,984 | C/G | — | likely benign |
| rs774542904 | 1:22,148,985 | G/A | — | uncertain significance |
| rs549986026 | 1:22,148,992 | C/T | — | uncertain significance |
| rs116354301 | 1:22,149,073 | G/A | — | benign |
| rs754815327 | 1:22,149,128 | G/A | — | uncertain significance |
| rs927771131 | 1:22,149,159 | C/T | — | uncertain significance |
| rs1049644 | 1:22,149,183 | G/C | — | benign |
| rs538032437 | 1:22,149,186 | G/C | — | likely benign |
| rs886046026 | 1:22,149,210 | T/G | — | uncertain significance |
| rs575020789 | 1:22,149,216 | G/A | — | likely benign |
| rs1347707634 | 1:22,149,259 | T/C | — | uncertain significance |
| rs752420673 | 1:22,149,280 | G/A | — | uncertain significance |
| rs141025054 | 1:22,149,379 | C/T | — | benign |
| rs2097955662 | 1:22,149,410 | G/T | — | uncertain significance |
| rs146732517 | 1:22,149,418 | C/T | — | likely benign |
| rs575761790 | 1:22,149,470 | G/T | — | uncertain significance |
| rs1173808135 | 1:22,149,505 | C/T | — | uncertain significance |
| rs561927299 | 1:22,149,591 | C/T | — | uncertain significance |
| rs886046027 | 1:22,149,601 | C/G | — | uncertain significance |
| rs777311066 | 1:22,149,706 | C/T | — | uncertain significance |
| rs543277819 | 1:22,149,711 | C/T | — | uncertain significance |
| rs541474662 | 1:22,149,764 | C/T | — | uncertain significance |
| rs936423705 | 1:22,149,770 | G/T | — | uncertain significance |
| rs568643216 | 1:22,149,789 | C/T | — | uncertain significance |
| rs779175945 | 1:22,149,812 | C/A | — | likely benign |
| rs961325868 | 1:22,149,813 | G/A | — | uncertain significance |
| rs759458534 | 1:22,149,825 | C/T | — | uncertain significance |
| rs767431377 | 1:22,149,826 | G/A | — | uncertain significance |
| rs752793818 | 1:22,149,832 | T/C | — | uncertain significance |
| rs760987196 | 1:22,149,836 | C/T | — | likely benign |
| rs554059442 | 1:22,149,838 | C/T | — | uncertain significance |
| rs572442894 | 1:22,149,839 | G/C | — | likely benign |
| rs116316900 | 1:22,149,840 | G/T | — | conflicting classifications of pathogenicity |
| rs779453903 | 1:22,149,847 | C/T | — | uncertain significance |
| rs750780384 | 1:22,149,848 | G/A | — | likely benign |
| rs557379530 | 1:22,149,849 | C/T | — | conflicting classifications of pathogenicity |
| rs576049096 | 1:22,149,850 | G/A | — | uncertain significance |
| rs2229477 | 1:22,149,866 | G/A | — | likely benign |
| rs886044123 | 1:22,149,876 | G/C | — | uncertain significance |
| rs555241640 | 1:22,149,878 | C/T | — | likely benign |
| rs1162348151 | 1:22,149,881 | G/A | — | likely benign |
| rs1323835816 | 1:22,149,884 | G/A | — | uncertain significance |
| rs373820736 | 1:22,149,886 | C/T | — | uncertain significance |
| rs759562639 | 1:22,149,887 | G/A | — | conflicting classifications of pathogenicity |
| rs771945509 | 1:22,149,889 | G/A | — | uncertain significance |
| rs373773624 | 1:22,149,891 | C/T | — | uncertain significance |
| rs573792702 | 1:22,149,896 | C/T | — | likely benign |
| rs62642502 | 1:22,149,897 | G/A | — | conflicting classifications of pathogenicity |
| rs1272238290 | 1:22,149,902 | C/A | — | likely benign |
| rs2097957383 | 1:22,149,910 | G/A | — | likely benign |
| rs897467 | 1:22,149,935 | C/T | — | benign |
| rs777552923 | 1:22,149,947 | G/C | — | likely benign |
| rs748956430 | 1:22,149,948 | C/T | — | uncertain significance |
| rs1023997960 | 1:22,149,951 | C/T | — | uncertain significance |
| rs148788926 | 1:22,149,952 | C/T | — | conflicting classifications of pathogenicity |
| rs778590896 | 1:22,149,953 | G/A | — | conflicting classifications of pathogenicity |
| rs151237224 | 1:22,149,959 | C/T | — | likely benign |
| rs772087950 | 1:22,149,960 | G/A | — | uncertain significance |
| rs145687082 | 1:22,149,967 | C/T | — | conflicting classifications of pathogenicity |
| rs531662488 | 1:22,149,968 | G/A | — | likely benign |
| rs1263243391 | 1:22,149,974 | G/A | — | likely benign |
| rs550270875 | 1:22,149,979 | C/T | — | uncertain significance |
| rs568526447 | 1:22,149,980 | G/A | — | conflicting classifications of pathogenicity |
| rs2550582690 | 1:22,149,984 | G/C | — | uncertain significance |
| rs376645617 | 1:22,149,986 | C/T | — | conflicting classifications of pathogenicity |
| rs370776663 | 1:22,149,999 | G/A | — | benign |
| rs2152682368 | 1:22,150,090 | G/A | — | likely benign |
| rs765041186 | 1:22,150,102 | G/A | — | likely benign |
| rs749949642 | 1:22,150,109 | C/T | — | uncertain significance |
| rs779443131 | 1:22,150,112 | T/C | — | uncertain significance |
| rs199592703 | 1:22,150,119 | G/A | — | likely benign |
| rs3736360 | 1:22,150,120 | C/T | missense variant | benign |
| rs1317082117 | 1:22,150,123 | C/T | — | uncertain significance |
| rs769986876 | 1:22,150,124 | C/T | — | uncertain significance |
| rs114015043 | 1:22,150,130 | C/T | — | likely benign |
| rs147161785 | 1:22,150,131 | G/A | — | likely benign |
| rs770996473 | 1:22,150,143 | G/A | — | likely benign |
| rs375607133 | 1:22,150,145 | T/A | — | uncertain significance |
| rs2097958602 | 1:22,150,146 | G/A | — | likely benign |
| rs2550583612 | 1:22,150,149 | A/T | — | likely benign |
| rs772757002 | 1:22,150,154 | G/A | — | uncertain significance |
| rs142762124 | 1:22,150,159 | C/G | — | uncertain significance |
| rs3736358 | 1:22,150,160 | G/T | — | uncertain significance |
| rs567999404 | 1:22,150,163 | C/T | — | uncertain significance |
| rs754919077 | 1:22,150,164 | G/A | — | likely benign |
| rs752480361 | 1:22,150,176 | C/T | — | likely benign |
| rs144864169 | 1:22,150,183 | T/G | — | uncertain significance |
| rs771101918 | 1:22,150,184 | C/G | — | uncertain significance |
| rs2097958823 | 1:22,150,190 | G/A | — | pathogenic |
| rs2550583763 | 1:22,150,200 | T/C | — | likely benign |
| rs199715708 | 1:22,150,204 | C/T | — | uncertain significance |
| rs761987723 | 1:22,150,205 | G/A | — | uncertain significance |
| rs111306515 | 1:22,150,214 | T/G | — | pathogenic |
| rs1327201232 | 1:22,150,219 | T/C | — | likely benign |
| rs3736357 | 1:22,150,257 | C/T | — | benign |
Showing 100 of 2,577 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.