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This gene encodes a member of the glutamate-gated ion channel protein family. The encoded protein is an N-methyl-D-aspartate (NMDA) receptor subunit. NMDA receptors are both ligand-gated and voltage-dependent, and are involved in long-term potentiation, an activity-dependent increase in the efficiency of synaptic transmission thought to underlie certain kinds of memory and learning. These receptors are permeable to calcium ions, and activation results in a calcium influx into post-synaptic cells, which results in the activation of several signaling cascades. Disruption of this gene is associated with focal epilepsy and speech disorder with or without mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
[中文简述(自动翻译):]  该基因编码的谷氨酸门控离子通道蛋白家族的一个成员。所编码的蛋白质是一种N-甲基-D-天冬氨酸(NMDA)受体亚基。 NMDA受体都是配体门控和电压依赖性,并参与长期增强,在认为是背后某些类型的记忆和学习的突触传递的效率的活性依赖性增加。这些受体是可渗透的钙离子,并在钙涌入突触后细胞,这导致几个信号级联的活化激活的结果。这种基因的破坏是有或没有智力障碍局灶性癫痫和言语障碍有关。选择性剪接结果在多个抄本变形。 [由RefSeq的,2014年5月提供]
GRIN2A基因(以及对应的蛋白质)的细胞分布位置:
GRIN2A基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Landau-Kleffner Syndrome | 0.240271442 | 1 | 0 | BeFree_CTD_human_ORPHANET |
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION | 0.24 | 7 | 0 | ORPHANET_UNIPROT |
Schizophrenia | 0.14162693 | 18 | 1 | BeFree_GAD_GWASCAT_LHGDN |
Epilepsy | 0.123257302 | 12 | 0 | BeFree_CTD_human |
Colorectal Neoplasms | 0.12272435 | 1 | 0 | CTD_human_LHGDN |
Hepatitis B | 0.122638474 | 1 | 1 | BeFree_GAD_GWASCAT |
Epilepsy, Rolandic | 0.120814326 | 4 | 0 | BeFree_CTD_human |
melanoma | 0.120542884 | 2 | 0 | BeFree_CTD_human |
Autistic Disorder | 0.120271442 | 1 | 0 | BeFree_CTD_human |
Language Development Disorders | 0.12 | 1 | 0 | CTD_human |
Morphine Dependence | 0.12 | 1 | 0 | CTD_human |
Speech Disorders | 0.12 | 1 | 0 | CTD_human |
Substance Withdrawal Syndrome | 0.12 | 1 | 0 | CTD_human |
Rolandic Epilepsy, Mental Retardation, And Speech Dyspraxia, Autosomal Dominant | 0.12 | 0 | 13 | CLINVAR |
Fetal Growth Retardation | 0.08 | 1 | 0 | RGD |
Placental Insufficiency | 0.08 | 1 | 0 | RGD |
Reperfusion Injury | 0.08 | 1 | 0 | RGD |
Sepsis | 0.08 | 1 | 0 | RGD |
Central Nervous System Viral Diseases | 0.08 | 1 | 0 | RGD |
Hypoxia-Ischemia, Brain | 0.08 | 1 | 0 | RGD |
Huntington Disease | 0.013449998 | 3 | 0 | BeFree_GAD_LHGDN |
Bipolar Disorder | 0.004810009 | 9 | 0 | BeFree_GAD |
Attention deficit hyperactivity disorder | 0.003452799 | 5 | 0 | BeFree_GAD |
Alcoholic Intoxication, Chronic | 0.003181358 | 3 | 1 | BeFree_GAD |
Alzheimer's Disease | 0.002995792 | 2 | 0 | BeFree_LHGDN |
Amyotrophic Lateral Sclerosis | 0.002638474 | 2 | 1 | BeFree_GAD |
Mental disorders | 0.002638474 | 2 | 0 | BeFree_GAD |
Narcolepsy | 0.002367032 | 1 | 0 | GAD |
Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
Weight Gain | 0.002367032 | 1 | 0 | GAD |
Weight Gain Adverse Event | 0.002367032 | 1 | 0 | GAD |
Unipolar Depression | 0.001085767 | 4 | 0 | BeFree |
Drug Resistant Epilepsy | 0.001085767 | 4 | 0 | BeFree |
Major Depressive Disorder | 0.001085767 | 4 | 0 | BeFree |
Epilepsies, Partial | 0.000542884 | 2 | 0 | BeFree |
Heroin Dependence | 0.000542884 | 2 | 0 | BeFree |
Liver Cirrhosis | 0.000542884 | 2 | 0 | BeFree |
Encephalopathies | 0.000542884 | 2 | 0 | BeFree |
Mood Disorders | 0.000542884 | 2 | 0 | BeFree |
Seizures, Focal | 0.000542884 | 2 | 0 | BeFree |
Cirrhosis | 0.000542884 | 2 | 0 | BeFree |
Intellectual Disability | 0.000542884 | 2 | 0 | BeFree |
CONTINUOUS SPIKE AND WAVES DURING SLOW-WAVE SLEEP SYNDROME | 0.000542884 | 2 | 0 | BeFree |
Aphasia | 0.000271442 | 1 | 0 | BeFree |
Apraxias | 0.000271442 | 1 | 0 | BeFree |
Malignant tumor of colon | 0.000271442 | 1 | 0 | BeFree |
Colorectal Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Mental Depression | 0.000271442 | 1 | 0 | BeFree |
Depressive disorder | 0.000271442 | 1 | 0 | BeFree |
Drug habituation | 0.000271442 | 1 | 0 | BeFree |
Dysarthria | 0.000271442 | 1 | 0 | BeFree |
Epilepsy, Temporal Lobe | 0.000271442 | 1 | 0 | BeFree |
Atrial Septal Defects | 0.000271442 | 1 | 0 | BeFree |
Ischemia | 0.000271442 | 1 | 0 | BeFree |
Mental Retardation | 0.000271442 | 1 | 0 | BeFree |
Psychotic Disorders | 0.000271442 | 1 | 0 | BeFree |
Seizures | 0.000271442 | 1 | 0 | BeFree |
West Syndrome | 0.000271442 | 1 | 0 | BeFree |
Status Epilepticus | 0.000271442 | 1 | 0 | BeFree |
Cerebrovascular accident | 0.000271442 | 1 | 0 | BeFree |
Trisomy | 0.000271442 | 1 | 0 | BeFree |
Neurofibrillary degeneration (morphologic abnormality) | 0.000271442 | 1 | 0 | BeFree |
Ganglioglioma | 0.000271442 | 1 | 0 | BeFree |
Speech impairment | 0.000271442 | 1 | 0 | BeFree |
Speech dysfunction | 0.000271442 | 1 | 0 | BeFree |
Nonorganic psychosis | 0.000271442 | 1 | 0 | BeFree |
Developmental delay (disorder) | 0.000271442 | 1 | 0 | BeFree |
Opiate Addiction | 0.000271442 | 1 | 0 | BeFree |
alcohol effect | 0.000271442 | 1 | 0 | BeFree |
Colon Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Hippocampal sclerosis | 0.000271442 | 1 | 0 | BeFree |
PHOTOPAROXYSMAL RESPONSE 1 | 0.000271442 | 1 | 0 | BeFree |
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