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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
KCND2 - Potassium Voltage-gated Channel Subfamily D Member 2
Alias:
RK5
KV4.2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
电压门控钾(Kv)通道在功能和结构上都是最复杂的电压门控离子通道类别。它们的功能包括调节神经递质释放、心率、胰岛素分泌、神经元兴奋性、上皮电解质运输、平滑肌收缩和细胞体积。在果蝇中已经发现了四个与钾通道基因序列相关的基因-shaker、shaw、shab和shal,每个基因都有一个人类同源基因。这个基因编码一个钾离子通道,电压门控,shal相关亚家族成员,它们形成电压激活的A型钾离子通道,在动作电位的复极化阶段中起着重要作用。这个成员调节一种快速失活的A型外向钾电流,它不受N端控制,就像Shaker通道一样。[由RefSeq,2008年7月提供]
Related ID:
NCBI:3751
ENSEMBL:ENSG00000184408
HGNC:6238
UNIPROT:Q9NZV8
OMIM:605410
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3751
2
6
477430 bp
70.54
298
1
4
29
KCND2 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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