BCL2(B细胞淋巴瘤2基因)属于BCL2基因家族,该家族主要调控细胞凋亡(程序性细胞死亡)过程,在维持细胞存活与死亡的平衡中起关键作用。BCL2基因编码的蛋白质是一种抗凋亡蛋白,通过抑制线粒体外膜通透性(MOMP)阻止细胞色素C的释放,从而阻断凋亡信号的传递,延长细胞存活时间。其主要作用位点在线粒体膜上,通过与促凋亡蛋白(如BAX、BAK)结合来抑制它们的活性。BCL2基因的突变可能导致其功能异常,例如在某些淋巴瘤中发现的染色体易位t(14;18)会使BCL2过表达,抑制正常凋亡过程,促进癌细胞存活,这与滤泡性淋巴瘤和慢性淋巴细胞白血病等疾病密切相关。如果BCL2过表达,会过度抑制细胞凋亡,可能导致肿瘤发生或对化疗药物产生耐药性;而降低表达则可能使细胞对凋亡信号过于敏感,导致组织损伤或加速神经退行性疾病(如阿尔茨海默病)的进程。BCL2基因家族成员通常含有BH(BCL2同源)结构域,分为抗凋亡蛋白(如BCL2、BCL-XL)和促凋亡蛋白(如BAX、BAK)两类,它们通过相互作用调控细胞命运。该家族在发育、免疫系统稳态和癌症中具有广泛影响,针对BCL2的药物(如 Venetoclax)已被开发用于治疗某些血液系统恶性肿瘤。
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BCL2基因(以及对应的蛋白质)的细胞分布位置:
BCL2基因的本体(GO)信息:
名称 |
---|
4141 Protein processing in endoplasmic reticulum [PATH:hsa04141] |
4064 NF-kappa B signaling pathway [PATH:hsa04064] |
4066 HIF-1 signaling pathway [PATH:hsa04066] |
4071 Sphingolipid signaling pathway [PATH:hsa04071] |
4151 PI3K-Akt signaling pathway [PATH:hsa04151] |
4210 Apoptosis [PATH:hsa04210] |
4510 Focal adhesion [PATH:hsa04510] |
4261 Adrenergic signaling in cardiomyocytes [PATH:hsa04261] |
4725 Cholinergic synapse [PATH:hsa04725] |
4722 Neurotrophin signaling pathway [PATH:hsa04722] |
5200 Pathways in cancer [PATH:hsa05200] |
5206 MicroRNAs in cancer [PATH:hsa05206] |
5210 Colorectal cancer [PATH:hsa05210] |
5215 Prostate cancer [PATH:hsa05215] |
5222 Small cell lung cancer [PATH:hsa05222] |
5014 Amyotrophic lateral sclerosis (ALS) [PATH:hsa05014] |
5152 Tuberculosis [PATH:hsa05152] |
5161 Hepatitis B [PATH:hsa05161] |
5169 Epstein-Barr virus infection [PATH:hsa05169] |
5145 Toxoplasmosis [PATH:hsa05145] |
名称 |
---|
Activation of BAD and translocation to mitochondria |
Activation of BH3-only proteins |
Apoptosis |
BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members |
Immune System |
Inflammasomes |
Innate Immune System |
Intrinsic Pathway for Apoptosis |
Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways |
Programmed Cell Death |
The NLRP1 inflammasome |
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Lymphoma, Follicular | 0.343804516 | 358 | 5 | BeFree_CTD_human_GAD_LHGDN_ORPHANET |
Chronic Lymphocytic Leukemia | 0.297966465 | 170 | 2 | BeFree_CTD_human_GAD_GWASCAT_LHGDN |
Colonic Neoplasms | 0.209801702 | 12 | 0 | BeFree_CTD_human_LHGDN_RGD |
Reperfusion Injury | 0.2054487 | 5 | 0 | CTD_human_LHGDN_RGD |
Alzheimer's Disease | 0.203724241 | 9 | 0 | BeFree_CTD_human_GAD_RGD |
Diabetes Mellitus, Non-Insulin-Dependent | 0.200542884 | 4 | 0 | BeFree_CTD_human_RGD |
Hypertensive disease | 0.200271442 | 3 | 0 | BeFree_CTD_human_RGD |
Polycystic Ovary Syndrome | 0.200271442 | 2 | 0 | BeFree_CTD_human_RGD |
Diabetes Mellitus, Experimental | 0.2 | 4 | 0 | CTD_human_RGD |
Erectile dysfunction | 0.2 | 2 | 0 | CTD_human_RGD |
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