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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
KCNIP2 - Potassium Voltage-gated Channel Interacting Protein 2
Alias:
KCHIP2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个属于电压门控钾(Kv)通道相互作用蛋白(KCNIPs)家族的成员,属于EF-hand超家族中的recoverin分支。KCNIP家族成员是小的钙结合蛋白,它们都具有EF手样的结构域,且在N端有所不同。它们是原生Kv4通道复合物的整合亚基成分。它们可能调节A型电流,从而响应细胞内钙变化调节神经元兴奋性。已从该基因中识别出多种可变剪接转录变异体,它们编码不同的异构体。[RefSeq,2008年7月提供]
Related ID:
NCBI:30819
ENSEMBL:ENSG00000120049
HGNC:15522
UNIPROT:Q9NS61
OMIM:604661
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
30819
12
10
17827 bp
30.91
6
--
7
15
KCNIP2 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Mutations
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
Tissue-specific RNA expression
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Cell-specific RNA expression
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Status
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Link
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References Literature
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