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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
GRIK2 - Glutamate Ionotropic Receptor Kainate Type Subunit 2
Alias:
EAA4
GLR6
MRT6
GLUK6
GLUR6
GluK2
NEDLAS
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
谷氨酸受体是哺乳动物大脑中主要的兴奋性神经递质受体,在各种正常的神经生理过程中被激活。这个基因产物属于谷氨酸受体的高钾家族,由四个亚单位组成,作为配体激活的离子通道发挥作用。这个基因编码的亚单位在第一和第二跨膜结构域内的多个位点受到RNA编辑的影响,被认为会改变受体复合物的结构和功能。这个基因的突变与常染色体隐性认知障碍有关。[RefSeq,2008年7月提供]
Related ID:
NCBI:2898
ENSEMBL:ENSG00000164418
HGNC:4580
UNIPROT:Q13002
OMIM:138244
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
2898
8
17
676376 bp
102.58
152
4
9
17
GRIK2 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
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Transcripts & Proteins
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#
Transcript
Length(nt)
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CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
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Interactions
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Type
Name
MGI
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Name
CAS Number
Status
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Link
No data available
References Literature
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Journal
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IF
No Data Found!
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