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This gene encodes the pulmonary-associated surfactant protein C (SPC), an extremely hydrophobic surfactant protein essential for lung function and homeostasis after birth. Pulmonary surfactant is a surface-active lipoprotein complex composed of 90% lipids and 10% proteins which include plasma proteins and apolipoproteins SPA, SPB, SPC and SPD. The surfactant is secreted by the alveolar cells of the lung and maintains the stability of pulmonary tissue by reducing the surface tension of fluids that coat the lung. Multiple mutations in this gene have been identified, which cause pulmonary surfactant metabolism dysfunction type 2, also called pulmonary alveolar proteinosis due to surfactant protein C deficiency, and are associated with interstitial lung disease in older infants, children, and adults. Alternatively spliced transcript variants encoding different protein isoforms have been identified.[provided by RefSeq, Feb 2010]
[中文简述(自动翻译):]  该基因编码的肺相关的表面活性蛋白C(SPC),极疏水性表面活性蛋白出生后肺功能和平衡至关重要。肺表面活性剂是90%的脂质和10%的蛋白质,其中包括血浆蛋白和载脂蛋白SPA,SPB,SPC和SPD组成的表面活性脂蛋白复合物。所述表面活性剂是由肺的肺泡细胞分泌,并通过减少流体,其外套肺的表面张力保持肺组织的稳定性。在该基因的多个突变已经确定,这引起肺表面活性代谢功能障碍,2型,也称为肺泡蛋白沉积症,由于表面活性蛋白C缺乏症,并且与间质性肺疾病的老年婴儿,儿童和成人相关联。另外剪接转录变体编码不同的蛋白质亚型已经确定。[由RefSeq的,2010年2月提供]
SFTPC基因(以及对应的蛋白质)的细胞分布位置:
SFTPC基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder) | 0.48 | 5 | 6 | CLINVAR_CTD_human_ORPHANET_UNIPROT |
Idiopathic Pulmonary Fibrosis | 0.243257302 | 12 | 1 | BeFree_CTD_human_ORPHANET |
Desquamative interstitial pneumonia | 0.2 | 0 | 0 | MGD_ORPHANET |
Diaphragmatic Hernia | 0.12 | 1 | 0 | CTD_human |
Polycystic Ovary Syndrome | 0.12 | 1 | 0 | CTD_human |
Respiratory Distress Syndrome In Premature Infants | 0.12 | 0 | 0 | ORPHANET |
Surfactant Metabolism Dysfunction, Pulmonary, 1 | 0.12 | 0 | 0 | CTD_human |
Respiratory Distress Syndrome, Newborn | 0.087991366 | 13 | 1 | BeFree_GAD_RGD |
Pneumonia, Bacterial | 0.08 | 1 | 0 | RGD |
Reperfusion Injury | 0.08 | 1 | 0 | RGD |
Hyperoxia | 0.08 | 1 | 0 | RGD |
Lung Diseases, Interstitial | 0.027942157 | 36 | 2 | BeFree_GAD_LHGDN |
Lung diseases | 0.01261581 | 19 | 0 | BeFree_GAD_LHGDN |
Bronchopulmonary Dysplasia | 0.007915422 | 5 | 1 | BeFree_GAD |
Pulmonary Fibrosis | 0.005895776 | 14 | 0 | BeFree_GAD |
Asthma | 0.005362824 | 2 | 0 | BeFree_GAD_LHGDN |
Fibrosis | 0.00272435 | 1 | 0 | LHGDN |
Infection | 0.00272435 | 1 | 0 | LHGDN |
Respiratory Distress Syndrome, Adult | 0.002714419 | 10 | 0 | BeFree |
Chronic Obstructive Airway Disease | 0.002638474 | 2 | 0 | BeFree_GAD |
Respiratory Syncytial Virus Infections | 0.002638474 | 2 | 0 | BeFree_GAD |
Bronchiolitis, Viral | 0.002367032 | 1 | 0 | GAD |
Pulmonary Emphysema | 0.002367032 | 1 | 0 | GAD |
Pneumonia, Interstitial | 0.001900093 | 7 | 0 | BeFree |
Hamman-Rich syndrome | 0.001357209 | 5 | 1 | BeFree |
Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site | 0.001357209 | 5 | 0 | BeFree |
Lung Neoplasms | 0.001085767 | 4 | 0 | BeFree |
Respiratory Failure | 0.001085767 | 4 | 0 | BeFree |
Adenocarcinoma | 0.000814326 | 3 | 0 | BeFree |
Pneumonia | 0.000814326 | 3 | 0 | BeFree |
Adenocarcinoma of lung (disorder) | 0.000814326 | 3 | 0 | BeFree |
Chronic lung disease | 0.000814326 | 3 | 0 | BeFree |
Borderline Personality Disorder | 0.000542884 | 2 | 0 | BeFree |
Chondrosarcoma | 0.000542884 | 2 | 0 | BeFree |
Pulmonary Hypertension | 0.000542884 | 2 | 0 | BeFree |
Pulmonary Alveolar Proteinosis | 0.000542884 | 2 | 0 | BeFree |
Respiratory distress | 0.000542884 | 2 | 0 | BeFree |
Neonatal respiratory failure | 0.000542884 | 2 | 0 | BeFree |
Chronic interstitial lung disease | 0.000542884 | 2 | 0 | BeFree |
Nonspecific interstitial pneumonia | 0.000542884 | 2 | 0 | BeFree |
Idiopathic Interstitial Pneumonias | 0.000542884 | 2 | 0 | BeFree |
RDS - infants | 0.000542884 | 2 | 0 | BeFree |
Surfactant Dysfunction | 0.000542884 | 2 | 0 | BeFree |
Non-Small Cell Lung Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Cystadenoma | 0.000271442 | 1 | 0 | BeFree |
Hyperinsulinism | 0.000271442 | 1 | 0 | BeFree |
Lipoid Proteinosis of Urbach and Wiethe | 0.000271442 | 1 | 1 | BeFree |
Neoplasm Metastasis | 0.000271442 | 1 | 0 | BeFree |
Pulmonary Edema | 0.000271442 | 1 | 0 | BeFree |
Respiration Disorders | 0.000271442 | 1 | 0 | BeFree |
Respiratory Tract Diseases | 0.000271442 | 1 | 0 | BeFree |
Virus Diseases | 0.000271442 | 1 | 0 | BeFree |
Lower respiratory tract infection | 0.000271442 | 1 | 0 | BeFree |
Small cell carcinoma of lung | 0.000271442 | 1 | 0 | BeFree |
Idiopathic pulmonary hypertension | 0.000271442 | 1 | 0 | BeFree |
Secondary malignant neoplasm of lung | 0.000271442 | 1 | 0 | BeFree |
Centriacinar Emphysema | 0.000271442 | 1 | 0 | BeFree |
Congenital diaphragmatic hernia | 0.000271442 | 1 | 0 | BeFree |
Non-small cell lung cancer stage I | 0.000271442 | 1 | 0 | BeFree |
Dysequilibrium syndrome | 0.000271442 | 1 | 0 | BeFree |
Multiple lung cysts | 0.000271442 | 1 | 0 | BeFree |
Carcinogenesis | 0.000271442 | 1 | 0 | BeFree |
Lung Diseases, Obstructive | 0.000271442 | 1 | 0 | BeFree |
Familial Dementia | 0.000271442 | 1 | 0 | BeFree |
Infectious disease of lung | 0.000271442 | 1 | 0 | BeFree |
Persistent pulmonary hypertension | 0.000271442 | 1 | 0 | BeFree |
Respiratory morbidity | 0.000271442 | 1 | 0 | BeFree |
Preterm Premature Rupture of Fetal Membranes | 0.000271442 | 1 | 0 | BeFree |
Pulmonary arterial hypertension | 0.000271442 | 1 | 0 | BeFree |
Pneumonitis | 0.000271442 | 1 | 0 | BeFree |
Pulmonary Hypertension, Primary, 1, With Hereditary Hemorrhagic Telangiectasia | 0.000271442 | 1 | 0 | BeFree |
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