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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 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]
[中文简述(自动翻译):]  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]
HSPG2基因(以及对应的蛋白质)的细胞分布位置:
HSPG2基因的本体(GO)信息:
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 |
Liver neoplasms | 0.009229024 | 34 | 0 | BeFree |
Alzheimer's Disease | 0.007729856 | 2 | 0 | BeFree_GAD_LHGDN |
Hepatitis B | 0.006786047 | 25 | 0 | BeFree |
Atherosclerosis | 0.002995792 | 2 | 0 | BeFree_LHGDN |
Prostatic Neoplasms | 0.002995792 | 2 | 0 | BeFree_LHGDN |
Intracranial Aneurysm | 0.002909916 | 2 | 0 | BeFree_GAD |
Nephrolithiasis | 0.002909916 | 3 | 0 | BeFree_GAD |
Muscular Dystrophy, Duchenne | 0.00272435 | 1 | 0 | LHGDN |
Myotonic Disorders | 0.00272435 | 1 | 0 | LHGDN |
Diabetes Mellitus, Insulin-Dependent | 0.002638474 | 2 | 0 | BeFree_GAD |
Chorioamnionitis | 0.002367032 | 1 | 0 | GAD |
Dyskinesia, Drug-Induced | 0.002367032 | 1 | 0 | GAD |
Fetal Membranes, Premature Rupture | 0.002367032 | 1 | 0 | GAD |
Premature Obstetric Labor | 0.002367032 | 1 | 0 | GAD |
Periodontitis | 0.002367032 | 1 | 0 | GAD |
Pre-Eclampsia | 0.002367032 | 1 | 0 | GAD |
Premature Birth | 0.002367032 | 1 | 0 | GAD |
Spinal Muscular Atrophies of Childhood | 0.002367032 | 1 | 0 | GAD |
Infection of amniotic sac and membranes, unspecified, unspecified trimester, not applicable or unspecified | 0.002367032 | 1 | 0 | GAD |
Stevens-Johnson Syndrome | 0.001900093 | 7 | 0 | BeFree |
Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum | 0.001900093 | 7 | 0 | BeFree |
Liver and Intrahepatic Biliary Tract Carcinoma | 0.001628651 | 6 | 0 | BeFree |
Neoplasm Metastasis | 0.001085767 | 4 | 0 | BeFree |
Tuberculosis | 0.001085767 | 4 | 0 | BeFree |
Hepatoblastoma | 0.001085767 | 4 | 0 | BeFree |
Malignant neoplasm of liver | 0.001085767 | 4 | 0 | BeFree |
Hypersensitive syndrome | 0.001085767 | 4 | 0 | BeFree |
Colon Carcinoma | 0.001085767 | 4 | 0 | BeFree |
Ameloblastoma | 0.000814326 | 3 | 0 | BeFree |
Malignant neoplasm of breast | 0.000814326 | 3 | 0 | BeFree |
Squamous cell carcinoma | 0.000814326 | 3 | 0 | BeFree |
Colorectal Carcinoma | 0.000814326 | 3 | 0 | BeFree |
HIV Infections | 0.000814326 | 3 | 0 | BeFree |
melanoma | 0.000814326 | 3 | 0 | BeFree |
Hepatitis E | 0.000814326 | 3 | 0 | BeFree |
Lingual-Facial-Buccal Dyskinesia | 0.000814326 | 3 | 1 | BeFree |
Chondrodysplasia | 0.000814326 | 3 | 0 | BeFree |
Breast Carcinoma | 0.000814326 | 3 | 0 | BeFree |
Tardive Dyskinesia | 0.000814326 | 3 | 1 | BeFree |
Drug Hypersensitivity Syndrome | 0.000814326 | 3 | 0 | BeFree |
Cystic Fibrosis | 0.000542884 | 2 | 0 | BeFree |
Diabetes Mellitus, Non-Insulin-Dependent | 0.000542884 | 2 | 0 | BeFree |
Diabetic Nephropathy | 0.000542884 | 2 | 0 | BeFree |
Toxic Epidermal Necrolysis | 0.000542884 | 2 | 0 | BeFree |
Exanthema | 0.000542884 | 2 | 0 | BeFree |
Hereditary Multiple Exostoses | 0.000542884 | 2 | 0 | BeFree |
Kidney Diseases | 0.000542884 | 2 | 0 | BeFree |
Schizophrenia | 0.000542884 | 2 | 0 | BeFree |
Tumor Progression | 0.000542884 | 2 | 0 | BeFree |
Pancreatic carcinoma | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of pancreas | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of prostate | 0.000542884 | 2 | 0 | BeFree |
Carcinogenesis | 0.000542884 | 2 | 0 | BeFree |
Prostate carcinoma | 0.000542884 | 2 | 0 | BeFree |
Acute Generalized Exanthematous Pustulosis | 0.000542884 | 2 | 0 | BeFree |
Hepatocarcinogenesis | 0.000542884 | 2 | 0 | BeFree |
Colorectal Cancer | 0.000542884 | 2 | 0 | BeFree |
Laryngeal cleft | 0.000542884 | 2 | 0 | BeFree |
Mental disorders | 0.000271442 | 1 | 0 | BeFree |
Carcinoma, Papillary | 0.000271442 | 1 | 0 | BeFree |
Chondrosarcoma | 0.000271442 | 1 | 0 | BeFree |
Coronary Arteriosclerosis | 0.000271442 | 1 | 0 | BeFree |
Coronary heart disease | 0.000271442 | 1 | 0 | BeFree |
Adenoid Cystic Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Hepatitis D Infection | 0.000271442 | 1 | 0 | BeFree |
Epidermolysis Bullosa | 0.000271442 | 1 | 0 | BeFree |
Esophageal Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Fibrodysplasia Ossificans Progressiva | 0.000271442 | 1 | 0 | BeFree |
Fibrosarcoma | 0.000271442 | 1 | 0 | BeFree |
Congestive heart failure | 0.000271442 | 1 | 0 | BeFree |
Hematological Disease | 0.000271442 | 1 | 0 | BeFree |
Hepatitis A | 0.000271442 | 1 | 0 | BeFree |
Hypercholesterolemia, Familial | 0.000271442 | 1 | 0 | BeFree |
Hyperlipidemia | 0.000271442 | 1 | 0 | BeFree |
Hyperphagia | 0.000271442 | 1 | 0 | BeFree |
Chronic Lymphocytic Leukemia | 0.000271442 | 1 | 0 | BeFree |
Leukemia, Myelomonocytic, Chronic | 0.000271442 | 1 | 0 | BeFree |
Acute Promyelocytic Leukemia | 0.000271442 | 1 | 0 | BeFree |
Micromelia | 0.000271442 | 1 | 0 | BeFree |
Nephritis, Interstitial | 0.000271442 | 1 | 0 | BeFree |
Obesity | 0.000271442 | 1 | 0 | BeFree |
Tangier Disease | 0.000271442 | 1 | 0 | BeFree |
Thanatophoric Dysplasia | 0.000271442 | 1 | 0 | BeFree |
Thyroid Neoplasm | 0.000271442 | 1 | 0 | BeFree |
Trisomy | 0.000271442 | 1 | 0 | BeFree |
Severe Combined Immunodeficiency | 0.000271442 | 1 | 0 | BeFree |
Active tuberculosis | 0.000271442 | 1 | 0 | BeFree |
Esophageal carcinoma | 0.000271442 | 1 | 0 | BeFree |
Follicular adenoma | 0.000271442 | 1 | 0 | BeFree |
Osteochondromatosis | 0.000271442 | 1 | 0 | BeFree |
Fibrosis, Liver | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of lung | 0.000271442 | 1 | 0 | BeFree |
Exencephaly | 0.000271442 | 1 | 0 | BeFree |
Familial Cerebral Amyloid Angiopathy | 0.000271442 | 1 | 0 | BeFree |
Chronic viral hepatitis | 0.000271442 | 1 | 0 | BeFree |
Solid tumour | 0.000271442 | 1 | 0 | BeFree |
Pseudocyst | 0.000271442 | 1 | 0 | BeFree |
Skeletal dysplasia | 0.000271442 | 1 | 0 | BeFree |
Hepatitis C, Chronic | 0.000271442 | 1 | 0 | BeFree |
Neuroleptic-Induced Tardive Dyskinesia | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of esophagus | 0.000271442 | 1 | 0 | BeFree |
Idiopathic scoliosis | 0.000271442 | 1 | 0 | BeFree |
Leukemogenesis | 0.000271442 | 1 | 0 | BeFree |
Epithelial ovarian cancer | 0.000271442 | 1 | 0 | BeFree |
Carcinoma of lung | 0.000271442 | 1 | 0 | BeFree |
Stomach Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Renal ischaemia | 0.000271442 | 1 | 0 | BeFree |
Metastatic Prostate Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Desmoplastic | 0.000271442 | 1 | 0 | BeFree |
Coronary Artery Disease | 0.000271442 | 1 | 0 | BeFree |
viral hepatitis E infection | 0.000271442 | 1 | 0 | BeFree |
Familial HDL deficiency | 0.000271442 | 1 | 0 | BeFree |
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