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The protein encoded by this gene belongs to the gp130 family of cytokine receptors that are known to stimulate gene transcription via activation of cytosolic STAT proteins. This protein is a receptor for leptin (an adipocyte-specific hormone that regulates body weight), and is involved in the regulation of fat metabolism, as well as in a novel hematopoietic pathway that is required for normal lymphopoiesis. Mutations in this gene have been associated with obesity and pituitary dysfunction. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. It is noteworthy that this gene and LEPROT gene (GeneID:54741) share the same promoter and the first 2 exons, however, encode distinct proteins (PMID:9207021).[provided by RefSeq, Nov 2010]
[中文简述(自动翻译):]  由该基因编码的蛋白质属于的gp130家族已知经由胞质STAT蛋白的激活,刺激基因转录的细胞因子受体。这种蛋白是瘦素(一种脂肪细胞特异性激素,调节体重)的受体,并参与脂肪代谢的调节,以及在该所需的正常淋巴细胞的新颖的造血途径。在这种基因突变已与肥胖和垂体功能障碍相关。编码不同同种型的可变剪接转录物变体已被用于这个基因说明。值得注意的是,这个基因和LEPROT基因(GeneID:54741)共享相同的启动子和第一外显子2,但是,编码不同的蛋白质(PMID:9207021)。[通过的RefSeq,2010年11月提供]
LEPR基因(以及对应的蛋白质)的细胞分布位置:
LEPR基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Obesity | 0.640987723 | 176 | 14 | BeFree_CLINVAR_CTD_human_GAD_GWASCAT_MGD_RGD |
| LEPTIN RECEPTOR DEFICIENCY | 0.24 | 0 | 0 | CLINVAR_ORPHANET |
| Diabetes Mellitus, Non-Insulin-Dependent | 0.239196045 | 28 | 3 | BeFree_CTD_human_GAD_LHGDN_MGD |
| Insulin Resistance | 0.136569224 | 8 | 0 | CTD_human_GAD |
| Mammary Neoplasms | 0.136445791 | 10 | 0 | BeFree_CTD_human_GAD_LHGDN |
| Hypertensive disease | 0.131996981 | 13 | 1 | BeFree_CTD_human_GAD_LHGDN |
| Diabetes Mellitus | 0.129172942 | 8 | 1 | BeFree_CTD_human_GAD_LHGDN |
| Obesity, Morbid | 0.127991366 | 15 | 0 | BeFree_CTD_human_GAD |
| Overweight | 0.123528744 | 14 | 4 | BeFree_CTD_human |
| Fibrosis | 0.12272435 | 2 | 0 | CTD_human_LHGDN |
| Pituitary Diseases | 0.122442977 | 9 | 0 | BeFree_CTD_human |
| Albuminuria | 0.122367032 | 3 | 0 | CTD_human_GAD |
| Hyperinsulinism | 0.121085767 | 8 | 0 | BeFree_CTD_human |
| Dyslipidemias | 0.120814326 | 4 | 0 | BeFree_CTD_human |
| Gestational Diabetes | 0.120542884 | 3 | 0 | BeFree_CTD_human |
| Diabetes Mellitus, Experimental | 0.12 | 5 | 0 | CTD_human |
| Hepatomegaly | 0.12 | 1 | 0 | CTD_human |
| Hyperglycemia | 0.12 | 4 | 0 | CTD_human |
| Hyperlipidemia | 0.12 | 1 | 0 | CTD_human |
| Hyperphagia | 0.12 | 3 | 0 | CTD_human |
| Hypogonadism | 0.12 | 1 | 0 | CTD_human |
| Immunologic Deficiency Syndromes | 0.12 | 1 | 0 | CTD_human |
| Infertility | 0.12 | 1 | 0 | CTD_human |
| Female infertility | 0.12 | 1 | 0 | CTD_human |
| Kidney Diseases | 0.12 | 1 | 0 | CTD_human |
| Inborn Errors of Metabolism | 0.12 | 1 | 0 | CTD_human |
| Pancreatic Diseases | 0.12 | 1 | 0 | CTD_human |
| Peripheral Neuropathy | 0.12 | 1 | 0 | CTD_human |
| Delayed Puberty | 0.12 | 1 | 0 | CTD_human |
| Respiratory Tract Infections | 0.12 | 1 | 0 | CTD_human |
| Pre-Eclampsia | 0.090182764 | 3 | 0 | GAD_LHGDN_RGD |
| Left Ventricular Hypertrophy | 0.080271442 | 2 | 1 | BeFree_RGD |
| Liver Cirrhosis, Experimental | 0.08 | 1 | 0 | RGD |
| Myocardial Reperfusion Injury | 0.08 | 2 | 0 | RGD |
| Pancreatitis | 0.08 | 1 | 0 | RGD |
| Short Bowel Syndrome | 0.08 | 1 | 0 | RGD |
| Malignant neoplasm of breast | 0.024169596 | 29 | 1 | BeFree_GAD |
| Weight Loss Adverse Event | 0.014202192 | 6 | 0 | GAD |
| Metabolic Syndrome X | 0.012453989 | 13 | 2 | BeFree_GAD |
| Anorexia Nervosa | 0.011168843 | 4 | 0 | BeFree_LHGDN |
| Sleep Apnea, Obstructive | 0.010911214 | 5 | 0 | BeFree_GAD_LHGDN |
| Metabolic Diseases | 0.00827274 | 5 | 0 | BeFree_GAD_LHGDN |
| Endometrial Neoplasms | 0.007815732 | 3 | 0 | GAD_LHGDN |
| Fatty Liver | 0.007458414 | 3 | 0 | GAD_LHGDN |
| Coronary heart disease | 0.007372538 | 3 | 0 | BeFree_GAD |
| Diabetes Mellitus, Insulin-Dependent | 0.007372538 | 4 | 0 | BeFree_GAD |
| Inflammation | 0.007101096 | 3 | 0 | GAD |
| Weight Gain | 0.007101096 | 3 | 0 | GAD |
| body mass | 0.007101096 | 3 | 0 | GAD |
| Weight Gain Adverse Event | 0.007101096 | 3 | 0 | GAD |
| Breast Carcinoma | 0.007057489 | 26 | 1 | BeFree |
| Impaired glucose tolerance | 0.006091273 | 6 | 2 | BeFree_GAD |
| Leukemia, Myelocytic, Acute | 0.005634266 | 3 | 0 | BeFree_GAD_LHGDN |
| Spina Bifida | 0.005634266 | 3 | 0 | BeFree_GAD_LHGDN |
| Asthma | 0.005362824 | 1 | 0 | BeFree_GAD_LHGDN |
| Hypercholesterolemia | 0.005362824 | 1 | 0 | BeFree_GAD_LHGDN |
| Colorectal Neoplasms | 0.005091382 | 2 | 0 | GAD_LHGDN |
| Precursor Cell Lymphoblastic Leukemia Lymphoma | 0.005091382 | 2 | 0 | GAD_LHGDN |
| Pregnancy in Diabetics | 0.005005506 | 3 | 0 | BeFree_GAD |
| Colonic Neoplasms | 0.004734064 | 2 | 0 | GAD |
| Chronic Obstructive Airway Disease | 0.004734064 | 2 | 0 | GAD |
| Lymphoma | 0.004734064 | 2 | 0 | GAD |
| Colorectal Cancer | 0.003995683 | 6 | 0 | BeFree_GAD |
| Endometriosis | 0.003538676 | 3 | 0 | BeFree_LHGDN |
| Neoplasm Metastasis | 0.003538676 | 4 | 0 | BeFree_LHGDN |
| Schizophrenia | 0.003267234 | 2 | 0 | BeFree_LHGDN |
| Atherosclerosis | 0.003181358 | 3 | 2 | BeFree_GAD |
| Polycystic Ovary Syndrome | 0.003181358 | 3 | 0 | BeFree_GAD |
| Stomach Neoplasms | 0.002995792 | 2 | 0 | BeFree_LHGDN |
| Multiple Sclerosis, Relapsing-Remitting | 0.002995792 | 2 | 0 | BeFree_LHGDN |
| Heart failure | 0.002909916 | 2 | 1 | BeFree_GAD |
| leukemia | 0.002909916 | 3 | 0 | BeFree_GAD |
| Osteoporosis | 0.002909916 | 3 | 0 | BeFree_GAD |
| Malignant neoplasm of lung | 0.002909916 | 3 | 0 | BeFree_GAD |
| Appendicitis | 0.00272435 | 1 | 0 | LHGDN |
| Bladder Neoplasm | 0.00272435 | 1 | 0 | LHGDN |
| Ulcerative Colitis | 0.00272435 | 1 | 0 | LHGDN |
| melanoma | 0.00272435 | 1 | 0 | LHGDN |
| Nephrotic Syndrome | 0.00272435 | 1 | 0 | LHGDN |
| Pituitary Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
| Pregnancy Complications | 0.00272435 | 1 | 0 | LHGDN |
| Prostatic Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
| Sleep Apnea Syndromes | 0.00272435 | 1 | 0 | LHGDN |
| Thrombosis | 0.00272435 | 1 | 0 | LHGDN |
| Prostatic Hyperplasia | 0.00272435 | 1 | 0 | LHGDN |
| Malignant neoplasm of urinary bladder | 0.002638474 | 2 | 0 | BeFree_GAD |
| Churg-Strauss Syndrome | 0.002638474 | 1 | 0 | BeFree_GAD |
| Liver diseases | 0.002638474 | 2 | 0 | BeFree_GAD |
| HELLP Syndrome | 0.002638474 | 1 | 0 | BeFree_GAD |
| Acute Coronary Syndrome | 0.002638474 | 1 | 1 | BeFree_GAD |
| Adenocarcinoma | 0.002367032 | 1 | 0 | GAD |
| Alzheimer's Disease | 0.002367032 | 1 | 0 | GAD |
| Bulimia | 0.002367032 | 1 | 0 | GAD |
| Squamous cell carcinoma | 0.002367032 | 1 | 0 | GAD |
| Animal Mammary Neoplasms | 0.002367032 | 1 | 0 | GAD |
| Mouth Neoplasms | 0.002367032 | 1 | 0 | GAD |
| Pathologic Neovascularization | 0.002367032 | 1 | 0 | GAD |
| Postoperative Complications | 0.002367032 | 1 | 0 | GAD |
| Precancerous Conditions | 0.002367032 | 1 | 0 | GAD |
| Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
| Complications of Diabetes Mellitus | 0.002367032 | 1 | 0 | GAD |
| Hepatitis C, Chronic | 0.002367032 | 1 | 0 | GAD |
| Pregnancy associated hypertension | 0.002367032 | 1 | 0 | GAD |
| Microsatellite Instability | 0.002367032 | 1 | 0 | GAD |
| Glucose Metabolism Disorders | 0.002367032 | 1 | 0 | GAD |
| Granulomatosis with polyangiitis | 0.002367032 | 1 | 0 | GAD |
| Carcinogenesis | 0.002171535 | 8 | 0 | BeFree |
| Colorectal Carcinoma | 0.001628651 | 6 | 0 | BeFree |
| Diabetes | 0.001357209 | 5 | 0 | BeFree |
| Adenoma | 0.001085767 | 4 | 0 | BeFree |
| Eclampsia | 0.001085767 | 4 | 2 | BeFree |
| Non-alcoholic Fatty Liver Disease | 0.001085767 | 4 | 1 | BeFree |
| Secondary malignant neoplasm of lymph node | 0.001085767 | 4 | 0 | BeFree |
| Liver carcinoma | 0.001085767 | 4 | 0 | BeFree |
| Arteriosclerosis | 0.000814326 | 3 | 2 | BeFree |
| Amebic colitis | 0.000814326 | 3 | 1 | BeFree |
| HIV Infections | 0.000814326 | 3 | 0 | BeFree |
| Klinefelter Syndrome | 0.000814326 | 3 | 0 | BeFree |
| Lymphoma, Non-Hodgkin | 0.000814326 | 3 | 0 | BeFree |
| Pituitary Adenoma | 0.000814326 | 3 | 0 | BeFree |
| Essential Hypertension | 0.000814326 | 3 | 0 | BeFree |
| Papillary thyroid carcinoma | 0.000814326 | 3 | 0 | BeFree |
| Hypogonadotropic hypogonadism | 0.000814326 | 3 | 0 | BeFree |
| Endometrial Carcinoma | 0.000814326 | 3 | 0 | BeFree |
| Stomach Carcinoma | 0.000814326 | 3 | 0 | BeFree |
| Amebiasis | 0.000542884 | 2 | 1 | BeFree |
| Mental disorders | 0.000542884 | 2 | 0 | BeFree |
| Malignant tumor of colon | 0.000542884 | 2 | 0 | BeFree |
| Cardiovascular Diseases | 0.000542884 | 2 | 0 | BeFree |
| Epilepsy | 0.000542884 | 2 | 0 | BeFree |
| Congestive heart failure | 0.000542884 | 2 | 1 | BeFree |
| Leukemia, Lymphocytic, Acute, L1 | 0.000542884 | 2 | 2 | BeFree |
| Myeloid Leukemia, Chronic | 0.000542884 | 2 | 0 | BeFree |
| Malignant neoplasm of stomach | 0.000542884 | 2 | 0 | BeFree |
| Myoma | 0.000542884 | 2 | 0 | BeFree |
| Nasal Polyps | 0.000542884 | 2 | 0 | BeFree |
| Psychotic Disorders | 0.000542884 | 2 | 1 | BeFree |
| Acute leukemia | 0.000542884 | 2 | 1 | BeFree |
| Tumor Progression | 0.000542884 | 2 | 0 | BeFree |
| Somatotropin deficiency | 0.000542884 | 2 | 0 | BeFree |
| Malignant neoplasm of prostate | 0.000542884 | 2 | 0 | BeFree |
| Hematopoietic Neoplasms | 0.000542884 | 2 | 0 | BeFree |
| Prostate carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Carcinoma of lung | 0.000542884 | 2 | 0 | BeFree |
| Colon Carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Premenopausal breast cancer | 0.000542884 | 2 | 1 | BeFree |
| Noninfiltrating Intraductal Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Non-Small Cell Lung Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Coronary Arteriosclerosis | 0.000271442 | 1 | 0 | BeFree |
| Diabetes Insipidus | 0.000271442 | 1 | 0 | BeFree |
| Diabetic Nephropathy | 0.000271442 | 1 | 0 | BeFree |
| Diarrhea | 0.000271442 | 1 | 1 | BeFree |
| Endocrine System Diseases | 0.000271442 | 1 | 0 | BeFree |
| Glioblastoma | 0.000271442 | 1 | 0 | BeFree |
| Glioma | 0.000271442 | 1 | 0 | BeFree |
| Hepatitis | 0.000271442 | 1 | 0 | BeFree |
| Hepatitis A | 0.000271442 | 1 | 0 | BeFree |
| Hyperlipidemia, Familial Combined | 0.000271442 | 1 | 1 | BeFree |
| Hyperparathyroidism | 0.000271442 | 1 | 0 | BeFree |
| insulinoma | 0.000271442 | 1 | 0 | BeFree |
| Lipoma | 0.000271442 | 1 | 0 | BeFree |
| liposarcoma | 0.000271442 | 1 | 0 | BeFree |
| Liver Abscess, Amebic | 0.000271442 | 1 | 1 | BeFree |
| Lupus Erythematosus, Systemic | 0.000271442 | 1 | 0 | BeFree |
| Meningioma | 0.000271442 | 1 | 0 | BeFree |
| Mental Retardation | 0.000271442 | 1 | 0 | BeFree |
| Multiple Myeloma | 0.000271442 | 1 | 0 | BeFree |
| Myocardial Infarction | 0.000271442 | 1 | 0 | BeFree |
| Ovarian Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Prader-Willi Syndrome | 0.000271442 | 1 | 0 | BeFree |
| Diffuse Large B-Cell Lymphoma | 0.000271442 | 1 | 0 | BeFree |
| Lymphoma, Large-Cell, Follicular | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of mouth | 0.000271442 | 1 | 1 | BeFree |
| Intestinal infectious disease (disorder) | 0.000271442 | 1 | 0 | BeFree |
| Glomerulosclerosis (disorder) | 0.000271442 | 1 | 0 | BeFree |
| Liposarcoma, Pleomorphic | 0.000271442 | 1 | 0 | BeFree |
| Lip and Oral Cavity Carcinoma | 0.000271442 | 1 | 1 | BeFree |
| Inclusion Body Myositis (disorder) | 0.000271442 | 1 | 0 | BeFree |
| Fibrosis, Liver | 0.000271442 | 1 | 0 | BeFree |
| Endometrioma | 0.000271442 | 1 | 0 | BeFree |
| Malignant Childhood Neoplasm | 0.000271442 | 1 | 0 | BeFree |
| Conventional (Clear Cell) Renal Cell Carcinoma | 0.000271442 | 1 | 2 | BeFree |
| Obesity, Abdominal | 0.000271442 | 1 | 0 | BeFree |
| Maturity onset diabetes mellitus in young | 0.000271442 | 1 | 0 | BeFree |
| Constitutional delay of growth and puberty | 0.000271442 | 1 | 0 | BeFree |
| Precocious Puberty, Central | 0.000271442 | 1 | 0 | BeFree |
| Alzheimer Disease, Late Onset | 0.000271442 | 1 | 1 | BeFree |
| Granulomatosis | 0.000271442 | 1 | 0 | BeFree |
| Hepatitis B, Chronic | 0.000271442 | 1 | 0 | BeFree |
| Leukemogenesis | 0.000271442 | 1 | 0 | BeFree |
| Central Diabetes Insipidus | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of kidney | 0.000271442 | 1 | 0 | BeFree |
| Tauopathies | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of ovary | 0.000271442 | 1 | 0 | BeFree |
| Adenoma of large intestine | 0.000271442 | 1 | 0 | BeFree |
| Renal carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Secondary Peritonitis | 0.000271442 | 1 | 0 | BeFree |
| Neoplasms, Intracranial | 0.000271442 | 1 | 0 | BeFree |
| Meningioma, benign, no ICD-O subtype | 0.000271442 | 1 | 0 | BeFree |
| Alcoholic Steatohepatitis | 0.000271442 | 1 | 2 | BeFree |
| Nonalcoholic Steatohepatitis | 0.000271442 | 1 | 0 | BeFree |
| Triple Negative Breast Neoplasms | 0.000271442 | 1 | 0 | BeFree |
| Infection in children | 0.000271442 | 1 | 0 | BeFree |
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