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Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to a family of glutamate receptors that are sensitive to alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA), and function as ligand-activated cation channels. These channels are assembled from 4 related subunits, GRIA1-4. The subunit encoded by this gene (GRIA2) is subject to RNA editing (CAG->CGG; Q->R) within the second transmembrane domain, which is thought to render the channel impermeable to Ca(2+). Human and animal studies suggest that pre-mRNA editing is essential for brain function, and defective GRIA2 RNA editing at the Q/R site may be relevant to amyotrophic lateral sclerosis (ALS) etiology. Alternative splicing, resulting in transcript variants encoding different isoforms, (including the flip and flop isoforms that vary in their signal transduction properties), has been noted for this gene. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  谷氨酸受体是哺乳动物脑中的主要兴奋性神经递质受体和在各种正常神经生理过程被激活。该基因产物属于家族谷氨酸受体是对α-氨基-3-羟基-5-甲基-4-异恶唑丙酸(AMPA)和功能作为配体激活的阳离子通道敏感的。这些通道是由4个亚基相关组装,GRIA1-4。由该基因(GRIA2)编码的亚基受RNA编辑(CAG-> CGG; Q-> R)的所述第二跨膜域内,这被认为是使该信道不可渗透的Ca(2+)。人类和动物的研究表明,前体mRNA编辑为脑功能,并在Q / R站点缺陷GRIA2 RNA编辑必要可能有关的肌萎缩性侧索硬化症(ALS)的病因。选择性剪接,产生转录变异体编码不同亚型(包括翻转和触发器,在其信号转导性质变化亚型),已经注意到了这个基因。 [由RefSeq的,2008年7月提供]
GRIA2基因(以及对应的蛋白质)的细胞分布位置:
GRIA2基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Status Epilepticus | 0.120271442 | 2 | 0 | BeFree_CTD_human |
Substance Withdrawal Syndrome | 0.12 | 1 | 0 | CTD_human |
Cocaine-Related Disorders | 0.12 | 1 | 0 | CTD_human |
Hyperactive behavior | 0.12 | 1 | 0 | CTD_human |
Schizophrenia | 0.008815624 | 6 | 0 | BeFree_GAD_LHGDN |
Amyotrophic Lateral Sclerosis | 0.008434561 | 12 | 0 | BeFree_LHGDN |
Epilepsy, Temporal Lobe | 0.002995792 | 2 | 0 | BeFree_LHGDN |
Alzheimer's Disease | 0.00272435 | 1 | 0 | LHGDN |
Bipolar Disorder | 0.002638474 | 2 | 0 | BeFree_GAD |
Mental disorders | 0.002367032 | 1 | 0 | GAD |
Weight Gain | 0.002367032 | 1 | 0 | GAD |
Weight Gain Adverse Event | 0.002367032 | 1 | 0 | GAD |
Epilepsy | 0.001628651 | 6 | 0 | BeFree |
Amyotrophic Lateral Sclerosis, Sporadic | 0.000814326 | 3 | 0 | BeFree |
Seizures | 0.000542884 | 2 | 0 | BeFree |
Cerebrovascular accident | 0.000542884 | 2 | 0 | BeFree |
Unipolar Depression | 0.000542884 | 2 | 0 | BeFree |
Impaired cognition | 0.000542884 | 2 | 0 | BeFree |
Ischemic stroke | 0.000542884 | 2 | 0 | BeFree |
Major Depressive Disorder | 0.000542884 | 2 | 0 | BeFree |
Ischemic Cerebrovascular Accident | 0.000542884 | 2 | 0 | BeFree |
Adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
Anxiety Disorders | 0.000271442 | 1 | 0 | BeFree |
Dementia, Vascular | 0.000271442 | 1 | 0 | BeFree |
Diabetes | 0.000271442 | 1 | 0 | BeFree |
Diabetes Mellitus | 0.000271442 | 1 | 0 | BeFree |
Glioblastoma | 0.000271442 | 1 | 0 | BeFree |
Glioma | 0.000271442 | 1 | 0 | BeFree |
nervous system disorder | 0.000271442 | 1 | 0 | BeFree |
Migraine Disorders | 0.000271442 | 1 | 0 | BeFree |
Lateral Sclerosis | 0.000271442 | 1 | 0 | BeFree |
Carcinoma, Neuroendocrine | 0.000271442 | 1 | 0 | BeFree |
Spastic | 0.000271442 | 1 | 0 | BeFree |
Malignant Glioma | 0.000271442 | 1 | 0 | BeFree |
mass lesion | 0.000271442 | 1 | 0 | BeFree |
Ovarian adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
Mixed dementia | 0.000271442 | 1 | 0 | BeFree |
Intellectual Disability | 0.000271442 | 1 | 0 | BeFree |
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