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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
GRIN2B - Glutamate Ionotropic Receptor NMDA Type Subunit 2B
Alias:
NR3
MRD6
NR2B
hNR3
DEE27
EIEE27
GluN2B
NMDAR2B
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码离子型谷氨酸受体超家族内的N-甲基-D-天门冬氨酸(NMDA)受体家族成员。编码的蛋白质是NMDA受体离子通道的亚单位,作为谷氨酸的激动剂结合位点。NMDA受体在中枢神经系统中的兴奋性突触传递中调节一个慢速的钙通透成分。NMDA受体是由七个遗传编码的、不同地表达的亚单位组成的四聚体,包括NR1(GRIN1)、NR2(GRIN2A、GRIN2B、GRIN2C或GRIN2D)和NR3(GRIN3A或GRIN3B)。这个基因在发育早期表达,提示它在大脑发育、电路形成、突触可塑性和细胞迁移和分化中发挥作用。这个基因内自然发生的突变与神经发育障碍有关,包括自闭症谱系障碍、注意力缺陷多动障碍、癫痫和精神分裂症。[由RefSeq,2017年8月提供]
Related ID:
NCBI:2904
ENSEMBL:ENSG00000273079
HGNC:4586
UNIPROT:Q13224
OMIM:138252
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
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Reference
2904
6
14
444798 bp
166.37
1298
11
22
24
GRIN2B Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
Gene Expression
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