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After removal of the precursor signal peptide, the insulin receptor precursor is post-translationally cleaved into two chains (alpha and beta) that are covalently linked. Binding of insulin to the insulin receptor (INSR) stimulates glucose uptake. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  除去该前体的信号肽后,胰岛素受体前体的翻译后切割成两条链(α和β),该共价连接。结合胰岛素的胰岛素受体(INSR)刺激葡萄糖摄取。已发现该基因编码不同亚型的两个转录变异体。 [由RefSeq的,2008年7月提供]
INSR基因(以及对应的蛋白质)的细胞分布位置:
INSR基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Donohue Syndrome | 0.493496149 | 46 | 17 | BeFree_CLINVAR_CTD_human_GAD_ORPHANET_UNIPROT |
Hyperinsulinemic Hypoglycemia, Familial, 5 | 0.48 | 1 | 3 | CLINVAR_CTD_human_ORPHANET_UNIPROT |
Diabetes Mellitus, Non-Insulin-Dependent | 0.401043039 | 114 | 11 | BeFree_CLINVAR_GAD_RGD_UNIPROT |
Rabson-Mendenhall Syndrome | 0.364071628 | 19 | 4 | BeFree_CLINVAR_ORPHANET_UNIPROT |
Insulin Resistance | 0.33183516 | 8 | 3 | CLINVAR_CTD_human_GAD_RGD |
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans | 0.24 | 18 | 5 | CTD_human_UNIPROT |
Alzheimer's Disease | 0.200542884 | 4 | 0 | BeFree_CTD_human_RGD |
Diabetes Mellitus, Experimental | 0.2 | 5 | 0 | CTD_human_RGD |
Diabetic Neuropathies | 0.2 | 1 | 0 | CTD_human_RGD |
Polycystic Ovary Syndrome | 0.159801061 | 34 | 2 | BeFree_GAD_GWASCAT_LHGDN |
Hyperinsulinism | 0.129238955 | 26 | 0 | BeFree_CTD_human_LHGDN |
Insulin resistance - type A | 0.124614512 | 17 | 0 | BeFree_ORPHANET |
Impaired glucose tolerance | 0.124538567 | 9 | 0 | BeFree_CTD_human_GAD |
Hyperglycemia | 0.123528744 | 14 | 0 | BeFree_CTD_human |
Hyperalgesia | 0.12 | 1 | 0 | CTD_human |
Lung diseases | 0.12 | 2 | 0 | CTD_human |
Parkinson Disease | 0.12 | 1 | 0 | CTD_human |
Congenital diaphragmatic hernia | 0.12 | 1 | 0 | CTD_human |
Substance-Related Disorders | 0.12 | 1 | 0 | CTD_human |
Type 2 diabetes mellitus with acanthosis nigricans | 0.12 | 0 | 10 | CLINVAR |
Lewy Body Disease | 0.12 | 1 | 0 | CTD_human |
Gestational Diabetes | 0.084538567 | 9 | 0 | BeFree_GAD_RGD |
Precancerous Conditions | 0.08 | 1 | 0 | RGD |
Short Bowel Syndrome | 0.08 | 1 | 0 | RGD |
Chronic Kidney Insufficiency | 0.08 | 1 | 0 | RGD |
Obesity | 0.017611384 | 32 | 1 | BeFree_GAD |
Hypertensive disease | 0.017002487 | 13 | 1 | BeFree_GAD_LHGDN |
Diabetes Mellitus | 0.012410381 | 37 | 0 | BeFree_GAD |
Diabetes | 0.011596056 | 34 | 0 | BeFree_GAD |
Malignant neoplasm of breast | 0.010705785 | 23 | 1 | BeFree_GAD |
Hyperandrogenism | 0.006720033 | 8 | 7 | BeFree_GAD_LHGDN |
Colorectal Cancer | 0.006634157 | 8 | 0 | BeFree_GAD |
Myotonic Dystrophy | 0.005981653 | 12 | 0 | BeFree_LHGDN |
Breast Carcinoma | 0.005971721 | 22 | 1 | BeFree |
Acanthosis Nigricans | 0.005624334 | 12 | 0 | BeFree_GAD |
Ovarian Diseases | 0.005428837 | 20 | 0 | BeFree |
Migraine with Aura | 0.005362824 | 1 | 0 | BeFree_GAD_LHGDN |
Coronary Arteriosclerosis | 0.005005506 | 3 | 0 | BeFree_GAD |
Malignant neoplasm of prostate | 0.004538567 | 9 | 1 | BeFree_GAD |
Liver carcinoma | 0.003800186 | 14 | 0 | BeFree |
Diabetes Mellitus, Insulin-Dependent | 0.003724241 | 6 | 0 | BeFree_GAD |
Atherosclerosis | 0.003452799 | 5 | 0 | BeFree_GAD |
Migraine Disorders | 0.003452799 | 4 | 0 | BeFree_GAD |
Congenital Myotonic Dystrophy | 0.003257302 | 12 | 0 | BeFree |
Insulin resistant diabetes | 0.003181358 | 3 | 0 | BeFree_GAD |
Prostatic Neoplasms | 0.002995792 | 2 | 0 | BeFree_LHGDN |
Malignant neoplasm of lung | 0.002909916 | 3 | 0 | BeFree_GAD |
Epithelial ovarian cancer | 0.002909916 | 3 | 0 | BeFree_GAD |
Choriocarcinoma | 0.00272435 | 1 | 0 | LHGDN |
Colorectal Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
Hyperprolactinemia | 0.00272435 | 1 | 0 | LHGDN |
ovarian neoplasm | 0.00272435 | 1 | 0 | LHGDN |
Carcinogenesis | 0.002714419 | 10 | 0 | BeFree |
Coronary heart disease | 0.002638474 | 2 | 0 | BeFree_GAD |
Liver diseases | 0.002638474 | 2 | 0 | BeFree_GAD |
Liver neoplasms | 0.002442977 | 9 | 0 | BeFree |
Malignant neoplasm of urinary bladder | 0.002367032 | 1 | 0 | GAD |
Hyperlipidemia | 0.002367032 | 1 | 0 | GAD |
Hypothyroidism | 0.002367032 | 1 | 1 | GAD |
Inflammation | 0.002367032 | 1 | 0 | GAD |
Kidney Failure, Chronic | 0.002367032 | 1 | 0 | GAD |
Chronic Obstructive Airway Disease | 0.002367032 | 1 | 0 | GAD |
Myocardial Infarction | 0.002367032 | 1 | 0 | GAD |
Pre-Eclampsia | 0.002367032 | 1 | 0 | GAD |
Psychosexual Disorders | 0.002367032 | 1 | 1 | GAD |
Thinness | 0.002367032 | 1 | 1 | GAD |
body mass | 0.002367032 | 1 | 0 | GAD |
Systemic arterial pressure | 0.002367032 | 1 | 0 | GAD |
Prostate carcinoma | 0.002171535 | 8 | 1 | BeFree |
Colorectal Carcinoma | 0.001900093 | 7 | 0 | BeFree |
Essential Hypertension | 0.001900093 | 7 | 0 | BeFree |
Hypoglycemia | 0.001357209 | 5 | 0 | BeFree |
Metabolic Diseases | 0.001357209 | 5 | 0 | BeFree |
Non-Small Cell Lung Carcinoma | 0.001085767 | 4 | 0 | BeFree |
Lipodystrophy | 0.001085767 | 4 | 0 | BeFree |
Pancreatic carcinoma | 0.001085767 | 4 | 0 | BeFree |
Malignant neoplasm of pancreas | 0.001085767 | 4 | 0 | BeFree |
Precursor B-cell lymphoblastic leukemia | 0.001085767 | 4 | 0 | BeFree |
Adenocarcinoma | 0.000814326 | 3 | 0 | BeFree |
Adenoma | 0.000814326 | 3 | 0 | BeFree |
Arteriosclerosis | 0.000814326 | 3 | 0 | BeFree |
Diabetic Nephropathy | 0.000814326 | 3 | 0 | BeFree |
Neoplasm Metastasis | 0.000814326 | 3 | 0 | BeFree |
Ovarian Carcinoma | 0.000814326 | 3 | 0 | BeFree |
Schizophrenia | 0.000814326 | 3 | 0 | BeFree |
Familial generalized lipodystrophy | 0.000814326 | 3 | 0 | BeFree |
Maturity onset diabetes mellitus in young | 0.000814326 | 3 | 0 | BeFree |
Non-alcoholic Fatty Liver Disease | 0.000814326 | 3 | 0 | BeFree |
Metabolic Syndrome X | 0.000814326 | 3 | 2 | BeFree |
Mammary Neoplasms | 0.000814326 | 3 | 0 | BeFree |
Congenital Abnormality | 0.000542884 | 2 | 0 | BeFree |
Burkitt Lymphoma | 0.000542884 | 2 | 0 | BeFree |
Lipoatrophic Diabetes Mellitus | 0.000542884 | 2 | 0 | BeFree |
Fatty Liver | 0.000542884 | 2 | 0 | BeFree |
Glioma | 0.000542884 | 2 | 0 | BeFree |
insulinoma | 0.000542884 | 2 | 0 | BeFree |
Kidney Diseases | 0.000542884 | 2 | 0 | BeFree |
Chronic Lymphocytic Leukemia | 0.000542884 | 2 | 0 | BeFree |
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma | 0.000542884 | 2 | 0 | BeFree |
Obesity, Morbid | 0.000542884 | 2 | 0 | BeFree |
Tumor Progression | 0.000542884 | 2 | 0 | BeFree |
Hepatoblastoma | 0.000542884 | 2 | 0 | BeFree |
Impaired cognition | 0.000542884 | 2 | 0 | BeFree |
Neurodegenerative Disorders | 0.000542884 | 2 | 0 | BeFree |
Carcinoma of lung | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of ovary | 0.000542884 | 2 | 0 | BeFree |
Lipoatrophy | 0.000542884 | 2 | 0 | BeFree |
Adenoma of large intestine | 0.000542884 | 2 | 0 | BeFree |
Anaplastic large B-cell lymphoma | 0.000542884 | 2 | 0 | BeFree |
Familial Partial Lipodystrophy, Type 2 | 0.000542884 | 2 | 0 | BeFree |
Coronary Artery Disease | 0.000542884 | 2 | 0 | BeFree |
Dysglycemia | 0.000542884 | 2 | 0 | BeFree |
Acromegaly | 0.000271442 | 1 | 0 | BeFree |
Amyloidosis | 0.000271442 | 1 | 0 | BeFree |
Anovulation | 0.000271442 | 1 | 6 | BeFree |
Malignant neoplasm of endometrium | 0.000271442 | 1 | 0 | BeFree |
Squamous cell carcinoma | 0.000271442 | 1 | 0 | BeFree |
Celiac Disease | 0.000271442 | 1 | 0 | BeFree |
Muscular Dystrophy, Duchenne | 0.000271442 | 1 | 0 | BeFree |
Endometriosis | 0.000271442 | 1 | 1 | BeFree |
Epidermodysplasia Verruciformis | 0.000271442 | 1 | 0 | BeFree |
Epilepsy, Temporal Lobe | 0.000271442 | 1 | 2 | BeFree |
Helminthiasis | 0.000271442 | 1 | 0 | BeFree |
Ketosis | 0.000271442 | 1 | 0 | BeFree |
Leukemia, Myelocytic, Acute | 0.000271442 | 1 | 0 | BeFree |
Lymphoma | 0.000271442 | 1 | 0 | BeFree |
Myopathy | 0.000271442 | 1 | 0 | BeFree |
Muscular Dystrophy | 0.000271442 | 1 | 0 | BeFree |
Rhabdomyosarcoma | 0.000271442 | 1 | 0 | BeFree |
Tuberous Sclerosis | 0.000271442 | 1 | 0 | BeFree |
Corneal Neovascularization | 0.000271442 | 1 | 0 | BeFree |
Neurofibrillary degeneration (morphologic abnormality) | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of brain | 0.000271442 | 1 | 0 | BeFree |
Secondary malignant neoplasm of lung | 0.000271442 | 1 | 0 | BeFree |
Ki-1+ Anaplastic Large Cell Lymphoma | 0.000271442 | 1 | 0 | BeFree |
Fibrocalculous pancreatic diabetes | 0.000271442 | 1 | 0 | BeFree |
Insulin Receptor, Defect in | 0.000271442 | 1 | 0 | BeFree |
Congenital Disorders of Glycosylation | 0.000271442 | 1 | 0 | BeFree |
Restenosis | 0.000271442 | 1 | 0 | BeFree |
Multiple malignancy | 0.000271442 | 1 | 0 | BeFree |
Endometrial Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Overweight | 0.000271442 | 1 | 0 | BeFree |
Ewings sarcoma | 0.000271442 | 1 | 0 | BeFree |
Carcinoma of larynx | 0.000271442 | 1 | 0 | BeFree |
Rhabdoid Tumor of the Kidney | 0.000271442 | 1 | 0 | BeFree |
Gross obesity | 0.000271442 | 1 | 0 | BeFree |
Sarcoma | 0.000271442 | 1 | 0 | BeFree |
Atypical teratoid/rhabdoid tumor | 0.000271442 | 1 | 0 | BeFree |
Chronic Kidney Diseases | 0.000271442 | 1 | 0 | BeFree |
Dysmorphism | 0.000271442 | 1 | 0 | BeFree |
Miller-McKusick-Malvaux-Syndrome (3M Syndrome) | 0.000271442 | 1 | 0 | BeFree |
Uterine Corpus Cancer | 0.000271442 | 1 | 0 | BeFree |
HAIR-AN syndrome | 0.000271442 | 1 | 0 | BeFree |
Three M Syndrome 1 | 0.000271442 | 1 | 0 | BeFree |
Clear-cell metastatic renal cell carcinoma | 0.000271442 | 1 | 0 | BeFree |
Nonalcoholic Steatohepatitis | 0.000271442 | 1 | 0 | BeFree |
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