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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
KCNA2 - Potassium Voltage-gated Channel Subfamily A Member 2
Alias:
HK4
MK2
HBK5
NGK1
RBK2
DEE32
HUKIV
KV1.2
EIEE32
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
钾通道代表了从功能和结构角度来看最复杂的电压门控离子通道类。它们的功能多样,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序列相关的钾通道基因-shaker、shaw、shab和shal,每个基因都有一个人类同源物。这个基因编码一个钾通道、电压门控、shaker相关亚家族的成员。这个成员包含六个跨膜结构域,第四个区段有一个shaker类型的重复。它属于延迟整流器类,该类成员的成员允许神经细胞在动作电位后高效地去极化。这个基因的无内含子编码区位于染色体1上的基因KCNA3和KCNA10附近。[由RefSeq,2008年7月提供]
Related ID:
NCBI:3737
ENSEMBL:ENSG00000177301
HGNC:6220
UNIPROT:P16389
OMIM:176262
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3737
6
3
37861 bp
56.72
379
2
9
18
KCNA2 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
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No data available
Transcripts & Proteins
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#
Transcript
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CDS(bp)
Protein
Length(aa)
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* This data comes from NCBI.
Gene Expression
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Alphabetical
Cell-specific RNA expression
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Type
Name
MGI
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Mutations
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CAS Number
Status
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Link
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References Literature
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