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The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein forms a heterodimer with BCL2, and functions as an apoptotic activator. This protein is reported to interact with, and increase the opening of, the mitochondrial voltage-dependent anion channel (VDAC), which leads to the loss in membrane potential and the release of cytochrome c. The expression of this gene is regulated by the tumor suppressor P53 and has been shown to be involved in P53-mediated apoptosis. Multiple alternatively spliced transcript variants, which encode different isoforms, have been reported for this gene. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  由该基因编码的蛋白质属于BCL2蛋白家族。 BCL2家族成员形成异源或同源二聚体和作用中所涉及的各种细胞活动,作为抗或促凋亡调节剂。此蛋白与BCL2的异二聚体,并且用作凋亡活化剂。这种蛋白质被报告进行交互,和增加的开口,线粒体电压依赖性阴离子通道(VDAC),这导致在膜电位丧失和细胞色素C的释放。该基因的表达是通过肿瘤抑制基因p53调节的,并已显示出参与了p53介导的细胞凋亡。多个可变剪接转录物变体,其编码不同同种型,已经报道了这个基因。 [由RefSeq的,2008年7月提供]
BAX基因(以及对应的蛋白质)的细胞分布位置:
BAX基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Alzheimer's Disease | 0.2 | 4 | 0 | CTD_human_RGD |
Diabetes Mellitus, Experimental | 0.2 | 3 | 0 | CTD_human_RGD |
Myocardial Reperfusion Injury | 0.2 | 2 | 0 | CTD_human_RGD |
Acute kidney injury | 0.2 | 2 | 0 | CTD_human_RGD |
Mammary Neoplasms | 0.133893193 | 7 | 0 | BeFree_CTD_human_LHGDN |
Colonic Neoplasms | 0.131711727 | 8 | 0 | BeFree_CTD_human_LHGDN |
Prostatic Neoplasms | 0.1254487 | 3 | 0 | CTD_human_LHGDN |
Esophageal Neoplasms | 0.12272435 | 1 | 0 | CTD_human_LHGDN |
Colon Carcinoma | 0.122714419 | 10 | 2 | BeFree_CLINVAR |
Myocardial Infarction | 0.120814326 | 5 | 0 | BeFree_CTD_human |
HIV Infections | 0.120271442 | 2 | 0 | BeFree_CTD_human |
Lymphoma, T-Cell, Cutaneous | 0.120271442 | 1 | 0 | BeFree_CTD_human |
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma | 0.120271442 | 1 | 2 | BeFree_CLINVAR |
Male infertility | 0.12 | 1 | 0 | CTD_human |
Intestinal Neoplasms | 0.12 | 1 | 0 | CTD_human |
Ischemia | 0.12 | 1 | 0 | CTD_human |
Nerve Degeneration | 0.12 | 1 | 0 | CTD_human |
Peripheral Neuropathy | 0.12 | 1 | 0 | CTD_human |
Polycystic Ovary Syndrome | 0.12 | 1 | 0 | CTD_human |
Drug-Induced Liver Injury | 0.12 | 1 | 0 | CTD_human |
Microsatellite Instability | 0.12 | 1 | 0 | CTD_human |
Cerebral Hemorrhage | 0.12 | 1 | 0 | CTD_human |
Fibroid Tumor | 0.083267234 | 3 | 0 | BeFree_LHGDN_RGD |
Dementia | 0.08272435 | 2 | 0 | LHGDN_RGD |
Diabetes Mellitus, Non-Insulin-Dependent | 0.080271442 | 2 | 0 | BeFree_RGD |
Hypertensive disease | 0.080271442 | 2 | 0 | BeFree_RGD |
Adrenal gland hypofunction | 0.08 | 1 | 0 | RGD |
Cardiomyopathy, Dilated | 0.08 | 1 | 0 | RGD |
Transient Ischemic Attack | 0.08 | 1 | 0 | RGD |
Multi-infarct dementia | 0.08 | 1 | 0 | RGD |
Depressive disorder | 0.08 | 1 | 0 | RGD |
Endometriosis | 0.08 | 1 | 0 | RGD |
Fetal Growth Retardation | 0.08 | 1 | 0 | RGD |
Gastrointestinal Hemorrhage | 0.08 | 1 | 0 | RGD |
Glaucoma | 0.08 | 1 | 0 | RGD |
Glomerulonephritis | 0.08 | 1 | 0 | RGD |
Heart Diseases | 0.08 | 1 | 0 | RGD |
Heart failure | 0.08 | 1 | 0 | RGD |
Huntington Disease | 0.08 | 2 | 0 | RGD |
Intermittent Claudication | 0.08 | 1 | 0 | RGD |
Intestinal Diseases | 0.08 | 1 | 0 | RGD |
Mammary Neoplasms, Experimental | 0.08 | 2 | 0 | RGD |
Morphine Dependence | 0.08 | 1 | 0 | RGD |
Nephritis, Interstitial | 0.08 | 1 | 0 | RGD |
Osteoporosis | 0.08 | 1 | 0 | RGD |
Reperfusion Injury | 0.08 | 2 | 0 | RGD |
Status Epilepticus | 0.08 | 1 | 0 | RGD |
Post-Traumatic Stress Disorder | 0.08 | 1 | 0 | RGD |
Thyroiditis | 0.08 | 1 | 0 | RGD |
Toxoplasmosis | 0.08 | 1 | 0 | RGD |
Myocardial Ischemia | 0.08 | 1 | 0 | RGD |
Erectile dysfunction | 0.08 | 1 | 0 | RGD |
Acute Lung Injury | 0.08 | 1 | 0 | RGD |
Endotoxemia | 0.08 | 1 | 0 | RGD |
Osteoarthritis, Knee | 0.08 | 1 | 0 | RGD |
Infarction, Middle Cerebral Artery | 0.08 | 1 | 0 | RGD |
Hypoxia-Ischemia, Brain | 0.08 | 1 | 0 | RGD |
Sarcopenia | 0.08 | 1 | 0 | RGD |
Arthritis, Experimental | 0.08 | 2 | 0 | RGD |
Chronic Lymphocytic Leukemia | 0.016621425 | 18 | 2 | BeFree_GAD_LHGDN |
Squamous cell carcinoma | 0.015164526 | 11 | 0 | BeFree_GAD_LHGDN |
B-Cell Lymphomas | 0.015154595 | 21 | 0 | BeFree_GAD_LHGDN |
leukemia | 0.011897292 | 9 | 0 | BeFree_GAD_LHGDN |
Colorectal Neoplasms | 0.011440285 | 6 | 0 | BeFree_LHGDN |
Anoxia | 0.010897401 | 4 | 0 | LHGDN |
Lung Neoplasms | 0.010897401 | 4 | 0 | LHGDN |
Cessation of life | 0.008173051 | 3 | 0 | LHGDN |
Myeloid Leukemia, Chronic | 0.008001298 | 4 | 0 | BeFree_GAD_LHGDN |
Colorectal Cancer | 0.007600372 | 28 | 0 | BeFree |
Glioblastoma | 0.007348794 | 8 | 1 | BeFree_LHGDN |
Burkitt Lymphoma | 0.006263026 | 5 | 0 | BeFree_LHGDN |
Liver carcinoma | 0.006263026 | 5 | 0 | BeFree_LHGDN |
Colorectal Carcinoma | 0.006243163 | 23 | 0 | BeFree |
Osteosarcoma | 0.005991584 | 3 | 0 | BeFree_LHGDN |
melanoma | 0.005720142 | 2 | 0 | BeFree_LHGDN |
Hodgkin Disease | 0.0054487 | 2 | 0 | LHGDN |
Stomach Neoplasms | 0.0054487 | 2 | 0 | LHGDN |
Carcinogenesis | 0.005428837 | 20 | 0 | BeFree |
Osteomyelitis | 0.005362824 | 1 | 0 | BeFree_GAD_LHGDN |
Malignant tumor of colon | 0.005352893 | 12 | 0 | BeFree_GAD |
Head and Neck Neoplasms | 0.004734064 | 2 | 0 | GAD |
Lymphoma, Non-Hodgkin | 0.004734064 | 2 | 0 | GAD |
Malignant neoplasm of lung | 0.004538567 | 9 | 1 | BeFree_GAD |
Adenocarcinoma | 0.004353001 | 7 | 0 | BeFree_LHGDN |
Carcinoma, Transitional Cell | 0.003810118 | 5 | 0 | BeFree_LHGDN |
Neoplasm Metastasis | 0.003538676 | 4 | 0 | BeFree_LHGDN |
Malignant neoplasm of breast | 0.003528744 | 13 | 0 | BeFree |
Breast Carcinoma | 0.003528744 | 13 | 0 | BeFree |
Renal Cell Carcinoma | 0.003267234 | 3 | 0 | BeFree_LHGDN |
Cholangiocarcinoma | 0.003267234 | 2 | 0 | BeFree_LHGDN |
Adenoma | 0.002995792 | 2 | 0 | BeFree_LHGDN |
Merkel cell carcinoma | 0.002995792 | 1 | 0 | BeFree_LHGDN |
Glioma | 0.002985861 | 11 | 0 | BeFree |
Malignant neoplasm of urinary bladder | 0.002909916 | 3 | 0 | BeFree_GAD |
Adenovirus Infections | 0.00272435 | 1 | 0 | LHGDN |
Asthma | 0.00272435 | 1 | 0 | LHGDN |
Bladder Neoplasm | 0.00272435 | 1 | 0 | LHGDN |
Hereditary Nonpolyposis Colorectal Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
Graves Disease | 0.00272435 | 1 | 0 | LHGDN |
Pancreatic Neoplasm | 0.00272435 | 1 | 0 | LHGDN |
Pituitary Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
Seminoma | 0.00272435 | 1 | 0 | LHGDN |
Varicose Ulcer | 0.00272435 | 1 | 0 | LHGDN |
Lichen Planus, Oral | 0.00272435 | 1 | 0 | LHGDN |
Neuroendocrine Tumors | 0.00272435 | 1 | 0 | LHGDN |
Neurodegenerative Disorders | 0.00272435 | 1 | 0 | LHGDN |
Malformations of Cortical Development | 0.00272435 | 1 | 0 | LHGDN |
Prostatic Hyperplasia | 0.00272435 | 1 | 0 | LHGDN |
Infection | 0.00272435 | 1 | 0 | LHGDN |
Ovarian Carcinoma | 0.002714419 | 10 | 0 | BeFree |
Endometrial Carcinoma | 0.002714419 | 10 | 0 | BeFree |
Malignant neoplasm of ovary | 0.002714419 | 10 | 0 | BeFree |
Lymphoma, Follicular | 0.002638474 | 2 | 0 | BeFree_GAD |
Multiple Sclerosis | 0.002638474 | 2 | 0 | BeFree_GAD |
Non-Small Cell Lung Carcinoma | 0.002442977 | 9 | 0 | BeFree |
Lymphoid leukemia | 0.002367032 | 1 | 0 | GAD |
Liver Cirrhosis | 0.002367032 | 1 | 0 | GAD |
Chronic Obstructive Airway Disease | 0.002367032 | 1 | 0 | GAD |
Neoplasm Recurrence, Local | 0.002367032 | 1 | 0 | GAD |
Pathologic Neovascularization | 0.002367032 | 1 | 0 | GAD |
Parkinson Disease | 0.002367032 | 1 | 0 | GAD |
Diffuse Large B-Cell Lymphoma | 0.002367032 | 1 | 0 | GAD |
Neoplasms, Second Primary | 0.002367032 | 1 | 0 | GAD |
Hepatopulmonary Syndrome | 0.002367032 | 1 | 0 | GAD |
Adenoma of large intestine | 0.002367032 | 1 | 0 | GAD |
Lymphoma | 0.002171535 | 8 | 0 | BeFree |
Tumor Progression | 0.002171535 | 8 | 0 | BeFree |
Malignant neoplasm of stomach | 0.001900093 | 7 | 0 | BeFree |
Carcinoma of lung | 0.001900093 | 7 | 1 | BeFree |
Leukemia, Myelocytic, Acute | 0.001628651 | 6 | 0 | BeFree |
Stomach Carcinoma | 0.001628651 | 6 | 0 | BeFree |
Acute lymphocytic leukemia | 0.001357209 | 5 | 0 | BeFree |
Malignant neoplasm of prostate | 0.001357209 | 5 | 0 | BeFree |
Prostate carcinoma | 0.001085767 | 4 | 0 | BeFree |
Precursor Cell Lymphoblastic Leukemia Lymphoma | 0.001085767 | 4 | 0 | BeFree |
Malignant neoplasm of endometrium | 0.000814326 | 3 | 0 | BeFree |
Pancreatic carcinoma | 0.000814326 | 3 | 0 | BeFree |
Malignant neoplasm of pancreas | 0.000814326 | 3 | 0 | BeFree |
Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site | 0.000814326 | 3 | 0 | BeFree |
Epithelial ovarian cancer | 0.000814326 | 3 | 0 | BeFree |
Hereditary Nonpolyposis Colorectal Cancer | 0.000814326 | 3 | 0 | BeFree |
Uterine Corpus Cancer | 0.000814326 | 3 | 0 | BeFree |
Malignant tumor of cervix | 0.000542884 | 2 | 0 | BeFree |
Diabetes Mellitus | 0.000542884 | 2 | 0 | BeFree |
Liver neoplasms | 0.000542884 | 2 | 0 | BeFree |
Multiple Myeloma | 0.000542884 | 2 | 0 | BeFree |
Uterine Fibroids | 0.000542884 | 2 | 0 | BeFree |
Metastatic malignant neoplasm to brain | 0.000542884 | 2 | 0 | BeFree |
Turcot syndrome (disorder) | 0.000542884 | 2 | 0 | BeFree |
Squamous cell carcinoma of esophagus | 0.000542884 | 2 | 0 | BeFree |
Solid tumour | 0.000542884 | 2 | 0 | BeFree |
Cervix carcinoma | 0.000542884 | 2 | 0 | BeFree |
Teratoma, Malignant | 0.000542884 | 2 | 0 | BeFree |
Secondary malignant neoplasm of liver | 0.000542884 | 2 | 0 | BeFree |
Osteosarcoma of bone | 0.000542884 | 2 | 0 | BeFree |
Leukemogenesis | 0.000542884 | 2 | 0 | BeFree |
Secondary malignant neoplasm of lymph node | 0.000542884 | 2 | 0 | BeFree |
Carcinoma of bladder | 0.000542884 | 2 | 0 | BeFree |
precancerous lesions | 0.000542884 | 2 | 0 | BeFree |
Squamous cell carcinoma of the head and neck | 0.000542884 | 2 | 0 | BeFree |
Epithelioma | 0.000542884 | 2 | 0 | BeFree |
Rash and Dermatitis Adverse Event Associated with Chemoradiation | 0.000542884 | 2 | 0 | BeFree |
Leukemia, B-Cell | 0.000542884 | 2 | 0 | BeFree |
Experimental Organism Basal Cell Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Acquired Immunodeficiency Syndrome | 0.000271442 | 1 | 0 | BeFree |
Acromegaly | 0.000271442 | 1 | 0 | BeFree |
Adrenal Gland Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Anemia, Sickle Cell | 0.000271442 | 1 | 0 | BeFree |
Arteriovenous fistula | 0.000271442 | 1 | 0 | BeFree |
Rheumatoid Arthritis | 0.000271442 | 1 | 0 | BeFree |
Ataxia Telangiectasia | 0.000271442 | 1 | 0 | BeFree |
Blast Phase | 0.000271442 | 1 | 0 | BeFree |
Adenocarcinoma of prostate | 0.000271442 | 1 | 0 | BeFree |
Ulcerative Colitis | 0.000271442 | 1 | 0 | BeFree |
Diabetes | 0.000271442 | 1 | 0 | BeFree |
Fibrosarcoma | 0.000271442 | 1 | 0 | BeFree |
Herpes Simplex Infections | 0.000271442 | 1 | 0 | BeFree |
Hyperglycemia | 0.000271442 | 1 | 0 | BeFree |
Keloid | 0.000271442 | 1 | 0 | BeFree |
Acute Erythroblastic Leukemia | 0.000271442 | 1 | 0 | BeFree |
Leukemia, Lymphocytic, Acute, L1 | 0.000271442 | 1 | 0 | BeFree |
Myeloid Leukemia | 0.000271442 | 1 | 0 | BeFree |
Acute Promyelocytic Leukemia | 0.000271442 | 1 | 0 | BeFree |
Premature Menopause | 0.000271442 | 1 | 0 | BeFree |
Mixed Salivary Gland Tumor | 0.000271442 | 1 | 0 | BeFree |
Obesity | 0.000271442 | 1 | 0 | BeFree |
Pneumonia | 0.000271442 | 1 | 0 | BeFree |
Adenomatous Polyposis Coli | 0.000271442 | 1 | 0 | BeFree |
Retinoblastoma | 0.000271442 | 1 | 0 | BeFree |
Salivary Gland Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Teratoma | 0.000271442 | 1 | 0 | BeFree |
Thyroid Neoplasm | 0.000271442 | 1 | 0 | BeFree |
Ovarian Failure, Premature | 0.000271442 | 1 | 0 | BeFree |
Li-Fraumeni Syndrome | 0.000271442 | 1 | 0 | BeFree |
Small cell carcinoma of lung | 0.000271442 | 1 | 0 | BeFree |
Adrenoleukodystrophy | 0.000271442 | 1 | 0 | BeFree |
Diabetes, Autoimmune | 0.000271442 | 1 | 0 | BeFree |
Hepatoblastoma | 0.000271442 | 1 | 0 | BeFree |
Vesicular Stomatitis | 0.000271442 | 1 | 0 | BeFree |
Spastic syndrome | 0.000271442 | 1 | 0 | BeFree |
Stage III Colon Cancer | 0.000271442 | 1 | 0 | BeFree |
Carcinoma breast stage IV | 0.000271442 | 1 | 0 | BeFree |
Metastatic melanoma | 0.000271442 | 1 | 0 | BeFree |
Cancer of Head and Neck | 0.000271442 | 1 | 0 | BeFree |
Liver and Intrahepatic Biliary Tract Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Lymphoid hyperplasia | 0.000271442 | 1 | 0 | BeFree |
Fibrous bands | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of liver | 0.000271442 | 1 | 0 | BeFree |
Thyroid carcinoma | 0.000271442 | 1 | 0 | BeFree |
Adrenal Cancer | 0.000271442 | 1 | 0 | BeFree |
Thrombocytosis | 0.000271442 | 1 | 0 | BeFree |
Breast adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
Colorectal cancer metastatic | 0.000271442 | 1 | 0 | BeFree |
Endometrial adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
Precursor B-cell lymphoblastic leukemia | 0.000271442 | 1 | 0 | BeFree |
Adenocarcinoma of large intestine | 0.000271442 | 1 | 0 | BeFree |
Hormone refractory prostate cancer | 0.000271442 | 1 | 0 | BeFree |
AIDS-Related Primary Effusion Lymphoma | 0.000271442 | 1 | 0 | BeFree |
indolent lymphoma | 0.000271442 | 1 | 0 | BeFree |
Burkitt-like lymphoma | 0.000271442 | 1 | 0 | BeFree |
Hepatocarcinogenesis | 0.000271442 | 1 | 0 | BeFree |
Type I Endometrial Adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
Xenograft Model | 0.000271442 | 1 | 0 | BeFree |
Adenocarcinoma, Endometrioid | 0.000271442 | 1 | 0 | BeFree |
Burkitt's lymphoma associated with AIDS | 0.000271442 | 1 | 0 | BeFree |
Philadelphia chromosome-positive acute lymphoblastic leukemia | 0.000271442 | 1 | 0 | BeFree |
Nasopharyngeal carcinoma | 0.000271442 | 1 | 0 | BeFree |
Stage III Colon Cancer AJCC v7 | 0.000271442 | 1 | 0 | BeFree |
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