CAMK2A(钙/钙调素依赖性蛋白激酶II α)是钙/钙调素依赖性蛋白激酶II(CaMKII)家族的重要成员,属于丝氨酸/苏氨酸蛋白激酶。该家族包括α、β、γ、δ四种亚型,共同特点是依赖钙离子(Ca²⁺)和钙调素(calmodulin)激活,并在神经元突触可塑性(如长时程增强LTP和长时程抑制LTD)中起核心作用。CAMK2A主要在大脑神经元中高表达,尤其在突触后密集区(PSD)富集,通过磷酸化靶蛋白(如AMPA受体、NMDA受体)调控突触强度和记忆形成。其功能特点是具有自磷酸化能力,即使钙信号消失仍可维持活性( autonomy),这种特性对长期记忆存储至关重要。突变(如T286A)会阻断自磷酸化,导致LTP缺陷和学习障碍;人类CAMK2A突变与神经发育疾病(如智力障碍、自闭症、癫痫)相关。过表达可能引发异常神经元兴奋性(如癫痫样放电),而表达降低则损害突触可塑性和认知功能。该基因还通过调控CREB、ERK等信号通路影响基因转录。家族共性包括:多亚基(6-12个亚基)组成同源/异源寡聚体、受钙信号激活、参与细胞兴奋性调控。在阿尔茨海默病中,CAMK2A活性异常与β-淀粉样蛋白毒性相关。
该基因的产物属于丝氨酸/苏氨酸蛋白激酶家族,并以钙(2 +)/钙调蛋白依赖性蛋白激酶亚家族。钙信号是用于在谷氨酸突触可塑性的几个方面是至关重要的。这种钙调素依赖性蛋白激酶是由四个不同的链:α,β,γ,和三角洲。由该基因编码的α链是必需的海马长期增强(LTP)和空间学习。除了其钙 - 钙调蛋白(CaM的)依赖的活性,该蛋白可经历自磷酸化,从而导致钙调独立活动。编码不同的两种亚型变种成绩单已经确定了这个基因。 [由RefSeq的,2008年11月提供]
CAMK2A基因(以及对应的蛋白质)的细胞分布位置:
CAMK2A基因的本体(GO)信息:
| 名称 |
|---|
| 4012 ErbB signaling pathway [PATH:hsa04012] |
| 4310 Wnt signaling pathway [PATH:hsa04310] |
| 4066 HIF-1 signaling pathway [PATH:hsa04066] |
| 4020 Calcium signaling pathway [PATH:hsa04020] |
| 4024 cAMP signaling pathway [PATH:hsa04024] |
| 4114 Oocyte meiosis [PATH:hsa04114] |
| 4911 Insulin secretion [PATH:hsa04911] |
| 4922 Glucagon signaling pathway [PATH:hsa04922] |
| 4912 GnRH signaling pathway [PATH:hsa04912] |
| 4921 Oxytocin signaling pathway [PATH:hsa04921] |
| 4916 Melanogenesis [PATH:hsa04916] |
| 4261 Adrenergic signaling in cardiomyocytes [PATH:hsa04261] |
| 4971 Gastric acid secretion [PATH:hsa04971] |
| 4725 Cholinergic synapse [PATH:hsa04725] |
| 4728 Dopaminergic synapse [PATH:hsa04728] |
| 4720 Long-term potentiation [PATH:hsa04720] |
| 4722 Neurotrophin signaling pathway [PATH:hsa04722] |
| 4740 Olfactory transduction [PATH:hsa04740] |
| 4750 Inflammatory mediator regulation of TRP channels [PATH:hsa04750] |
| 4713 Circadian entrainment [PATH:hsa04713] |
| 5205 Proteoglycans in cancer [PATH:hsa05205] |
| 5214 Glioma [PATH:hsa05214] |
| 5031 Amphetamine addiction [PATH:hsa05031] |
| 5152 Tuberculosis [PATH:hsa05152] |
| 名称 |
|---|
| Activation of NMDA receptor upon glutamate binding and postsynaptic events |
| beta-catenin independent WNT signaling |
| Ca2+ pathway |
| Cellular response to heat stress |
| Cellular responses to stress |
| CREB phosphorylation through the activation of CaMKII |
| CREB phosphorylation through the activation of Ras |
| Cytokine Signaling in Immune system |
| Glutamate Binding, Activation of AMPA Receptors and Synaptic Plasticity |
| HSF1-dependent transactivation |
| Immune System |
| Interferon gamma signaling |
| Interferon Signaling |
| Neuronal System |
| Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell |
| Post NMDA receptor activation events |
| Ras activation uopn Ca2+ infux through NMDA receptor |
| Signal Transduction |
| Signaling by Wnt |
| Trafficking of AMPA receptors |
| Transmission across Chemical Synapses |
| Unblocking of NMDA receptor, glutamate binding and activation |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Hepatolenticular Degeneration | 0.12 | 1 | 0 | CTD_human |
| Hyperalgesia | 0.12 | 1 | 0 | CTD_human |
| Obesity | 0.12 | 1 | 1 | GWASCAT |
| Cocaine-Related Disorders | 0.12 | 1 | 0 | CTD_human |
| Inflammation | 0.08 | 1 | 0 | RGD |
| Alzheimer's Disease | 0.002995792 | 2 | 1 | BeFree_LHGDN |
| Schizophrenia | 0.00272435 | 1 | 0 | LHGDN |
| Osteosarcoma | 0.00272435 | 1 | 0 | LHGDN |
| Squamous cell carcinoma | 0.00272435 | 1 | 0 | LHGDN |
| Bipolar Disorder | 0.002638474 | 2 | 0 | BeFree_GAD |
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