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HSPG2 |
LOCUS ID | 3339 | ||||||||||
GENE_SYMBOL | HSPG2 | ||||||||||
GENE NAME | heparan sulfate prot | ||||||||||
SYNONYMNS | PLC, SJA, SJS, HSPG, SJS1, PRCAN | ||||||||||
CHROMOSOME | 1 | ||||||||||
HOMOLOGENE ID | 68473 |
microRNAs | NA | NA |
GENE SUMMARY |
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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 multi |
OBSERVATIONS |
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Complication | Evidence | PMID |
Nephropathy | 1. 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 |