HSPG2 (heparan sulfate proteoglycan 2)
- symbol:
- HSPG2
- locus group:
- protein-coding gene
- location:
- 1p36.12
- gene_family:
- Proteoglycans - ungrouped|I-set domain containing|Immunoglobulin-like domain containing
- alias symbol:
- perlecan|PRCAN
- alias name:
- perlecan proteoglycan|endorepellin
- entrez id:
- 3339
- ensembl gene id:
- ENSG00000142798
- ucsc gene id:
- uc001bfj.4
- refseq accession:
- NM_005529
- hgnc_id:
- HGNC:5273
- approved reserved:
- 1991-02-27
HSPG2基因编码基底膜蛋白聚糖（perlecan），这是一种大型硫酸乙酰肝素蛋白聚糖，广泛存在于细胞外基质和基底膜中。基底膜蛋白聚糖由五个结构域组成，具有多种生物学功能，包括维持组织结构完整性、调节细胞粘附和迁移、参与生长因子信号传导以及调控血管生成等。它通过与多种细胞外基质成分（如胶原、层粘连蛋白）和生长因子（如FGF、VEGF）相互作用发挥功能。HSPG2属于硫酸乙酰肝素蛋白聚糖（HSPG）基因家族，该家族成员共同特点是含有硫酸乙酰肝素糖链，能够结合多种配体并参与细胞间通讯。HSPG2突变可导致多种遗传性疾病，最常见的是Schwartz-Jampel综合征（表现为骨骼异常和肌强直）和Dyssegmental发育不良（严重骨骼发育异常）。这些突变通常影响蛋白聚糖的结构或功能，破坏基底膜完整性或干扰生长因子信号。HSPG2过表达与肿瘤进展相关，可能通过促进血管生成和肿瘤细胞侵袭；而表达降低则可能导致组织脆弱和发育缺陷。该基因在胚胎发育中至关重要，敲除小鼠模型显示致死性表型。HSPG2还参与伤口愈合、软骨形成和神经系统发育等过程，其表达水平变化可能影响这些生理过程。
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]
该基因编码的蛋白质的基底膜，其中包括到粘多糖（硫酸乙酰肝素或硫酸软骨素）的三长链连接一个核心蛋白。的串珠素蛋白是结合和交联的许多细胞外基质组分和细胞表面分子的大型多域蛋白多糖。已经表明，该蛋白与层粘连蛋白，prolargin，IV型胶原，FGFBP1，FBLN2，FGF7和运甲状腺素等相互作用，并且它在多个生物活性至关重要的作用。串珠素是血管的细胞外基质，它有助于维持内皮屏障功能的关键组成部分。它是平滑肌细胞增殖的有效抑制剂，并因此认为有助于维持血管稳态。它也能促进生长因子（例如，FGF2）活性，因此刺激内皮细胞生长和重新生成。它是基底膜，在那里它参与其他分子的稳定化以及被卷入与肾小球通透性大分子和细胞粘附的主要组成部分。这种基因的原因施瓦茨 - 降边辨证分型1突变，西尔弗曼-Handmaker型dyssegmental发育不良，和迟发性运动障碍。这个基因的选择性剪接的结果在多个转录变体。 [由RefSeq的，2014年5月提供]
基因本体信息
HSPG2基因（以及对应的蛋白质）的细胞分布位置：
- 质膜
- 细胞质
- 细胞外
- 高尔基体
- 囊泡
- 细胞骨架
- 内质网
- 细胞核
- 内体
- 溶酶体
- 线粒体
HSPG2基因的本体（GO）信息：
| 名称 |
|---|
| 4512 ECM-receptor interaction [PATH:hsa04512] |
| 5205 Proteoglycans in cancer [PATH:hsa05205] |
| 5161 Hepatitis B [PATH:hsa05161] |
| 名称 |
|---|
| A tetrasaccharide linker sequence is required for GAG synthesis |
| Amyloids |
| Chondroitin sulfate/dermatan sulfate metabolism |
| Chylomicron-mediated lipid transport |
| Defective B3GAT3 causes JDSSDHD |
| Defective B4GALT7 causes EDS, progeroid type |
| Defective EXT1 causes exostoses 1, TRPS2 and CHDS |
| Defective EXT2 causes exostoses 2 |
| Degradation of the extracellular matrix |
| Disease |
| Diseases associated with glycosaminoglycan metabolism |
| Diseases of glycosylation |
| Extracellular matrix organization |
| Glycosaminoglycan metabolism |
| Heparan sulfate/heparin (HS-GAG) metabolism |
| HS-GAG biosynthesis |
| HS-GAG degradation |
| Integrin cell surface interactions |
| Laminin interactions |
| Lipid digestion, mobilization, and transport |
| Lipoprotein metabolism |
| Metabolism |
| Metabolism of carbohydrates |
| Metabolism of lipids and lipoproteins |
| Non-integrin membrane-ECM interactions |
| Retinoid metabolism and transport |
| Signal Transduction |
| Visual phototransduction |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Schwartz-Jampel Syndrome | 0.441357209 | 5 | 1 | BeFree_CLINVAR_MGD_ORPHANET_UNIPROT |
| Dyssegmental dysplasia | 0.320814326 | 3 | 0 | BeFree_CTD_human_MGD_ORPHANET |
| Osteochondrodysplasias | 0.12272435 | 3 | 0 | CTD_human_LHGDN |
| Craniofacial Abnormalities | 0.120271442 | 1 | 0 | BeFree_CTD_human |
| Schizophrenia, Childhood | 0.12 | 0 | 1 | CLINVAR |
| THANATOPHORIC DYSPLASIA, TYPE I (disorder) | 0.080271442 | 1 | 0 | BeFree_MGD |
| Diabetes Mellitus, Experimental | 0.08 | 1 | 0 | RGD |
| Hypertensive disease | 0.08 | 1 | 0 | RGD |
| Transposition of the Great Arteries, Dextro-Looped 1 | 0.08 | 0 | 0 | MGD |
| Liver carcinoma | 0.02035814 | 75 | 0 | BeFree |
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