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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
KCNJ2 - Potassium Inwardly Rectifying Channel Subfamily J Member 2
Alias:
IRK1
LQT7
SQT3
ATFB9
HHIRK1
KIR2.1
HHBIRK1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
钾通道存在于大多数哺乳动物细胞中,参与多种生理反应。这个基因编码的蛋白质是整合膜蛋白和内向整流型钾通道。编码的蛋白质倾向于允许钾进入细胞而非排出细胞,可能参与建立动作电位波形和神经组织与肌肉组织的兴奋性。这个基因的突变与安德森综合症有关,其特征为周期性瘫痪、心律失常和畸形特征。[RefSeq,2008年7月提供]
Related ID:
NCBI:3759
ENSEMBL:ENSG00000123700
HGNC:6263
UNIPROT:P63252
OMIM:600681
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3759
1
2
10513 bp
48.29
536
5
5
16
KCNJ2 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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Name
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Status
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Link
No data available
References Literature
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No Data Found!
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